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Gene | SMARCB1 |
Variant | D159N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | SMARCB1 D159N does not lie within any known functional domains of the Smarcb1 protein (UniProt.org). D159N has not been characterized and therefore, its effect on Smarcb1 protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
SMARCB1 mutant SMARCB1 D159N |
Transcript | NM_003073.5 |
gDNA | chr22:g.23801056G>A |
cDNA | c.475G>A |
Protein | p.D159N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011530345 | chr22:g.23801056G>A | c.475G>A | p.D159N | RefSeq | GRCh38/hg38 |
NM_003073.4 | chr22:g.23801056G>A | c.475G>A | p.D159N | RefSeq | GRCh38/hg38 |
NM_001362877.2 | chr22:g.23801056G>A | c.475G>A | p.D159N | RefSeq | GRCh38/hg38 |
NM_003073.5 | chr22:g.23801056G>A | c.475G>A | p.D159N | RefSeq | GRCh38/hg38 |
NM_003073 | chr22:g.23801056G>A | c.475G>A | p.D159N | RefSeq | GRCh38/hg38 |
XM_011530345.2 | chr22:g.23801056G>A | c.475G>A | p.D159N | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
SMARCB1 D159N | unknown |