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Gene | PBRM1 |
Variant | R58* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PBRM1 R58* results in a premature truncation of the Pbrm1 protein at amino acid 58 of 1689 (UniProt.org). R58* has not been characterized, however, due to the effects of other truncation mutations downstream of R58 (PMID: 28082722), is predicted to lead to a loss of Pbrm1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PBRM1 mutant PBRM1 inact mut PBRM1 R58* |
Transcript | NM_018313.5 |
gDNA | chr3:g.52678564G>A |
cDNA | c.172C>T |
Protein | p.R58* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017006757 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001350076.2 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405582.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_005265282.4 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_047448442.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006726.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006743.2 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006754 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405553.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006752 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405554.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006742.2 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006745 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006748.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405584.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405575.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_018313 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405630.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001394878.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006741.2 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405623.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006761 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006753.2 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405559.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_011533902.4 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_005265283 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405610.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001400473.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_011533903.4 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006728.2 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405583.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001394874.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405592.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405642.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006727.2 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006738 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006726.2 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006740 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405626.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405621.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006742 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405564.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001400474.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006742.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_047448451.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405614.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405588.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006741.3 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006725.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405587.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001400504.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405632.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001350074.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405641.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006758.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405631.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006725.2 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_005265280 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006758 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006727.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001400501.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006756.2 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_047448449.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_011533900 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006745.2 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006753 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405560.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_018313.5 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405576.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006766 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006725 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405604.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001394875.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006750.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006728.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001394880.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006727 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405603.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001400475.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405593.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_005265279 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006754.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405633.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405567.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405577.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405640.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405639.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405624.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006739 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405615.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006765 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006743 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405565.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006735 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006737 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006760 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_011533900.3 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405585.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405572.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001400470.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006749.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006764.2 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006764 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006751.2 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405598.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001350079.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001400484.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405561.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001350075.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405609.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006732.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405606.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006740.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_047448450.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405643.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001366072.2 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_011533902 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405578.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001400472.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_047448462.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006762 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405616.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405570.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_181042.5 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405634.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405601.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006732 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001350078.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405595.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001400479.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001350079.2 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001400481.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405629.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405618.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006751 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006747 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006747.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006726 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405552.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405597.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006736.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_047448447.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405563.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_047448460.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001394868.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001400471.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006756 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405635.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405617.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405580.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001400490.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405619.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001394877.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006759.2 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006746 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_011533900.4 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006741 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006738.2 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_047448443.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405627.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_047448448.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405602.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001350075.2 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001366075.2 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_011533903 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405557.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_018313.4 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001394876.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001350078.2 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006737.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405607.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001394871.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006729 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_005265279.5 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_005265282 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405638.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405622.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006755 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405581.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001400487.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006746.2 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006729.2 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006749 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001400496.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405568.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_047448446.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_181042.4 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405628.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_011533903.3 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405558.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001394881.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001394873.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405579.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405573.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_005265280.3 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006752.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405589.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405569.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405571.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006755.2 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001394872.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405613.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006759 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405620.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006728 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405555.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405594.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006750 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_011533902.3 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405636.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405599.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006735.2 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405611.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405605.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405612.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006748 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001366071.2 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001366070.2 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006739.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001350074.2 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405590.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001394867.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_017006736 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001400500.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405556.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001394879.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
XM_047448456.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001405586.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001394869.1 | chr3:g.52678564G>A | c.172C>T | p.R58* | RefSeq | GRCh38/hg38 |
NM_001350076.1 | chr3:g.52679603T>A | c.172A>T | p.R58* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PBRM1 R58* | loss of function - predicted | EZH2 inhibitor |