Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | TSC1 |
Variant | C165Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TSC1 C165Y does not lie within any known functional domains of the Tsc1 protein (UniProt.org). C165Y has not been characterized in the scientific literature and therefore, its effect on Tsc1 protein function is unknown (PubMed, Jul 2024). |
Associated Drug Resistance | |
Category Variants Paths |
TSC1 mutant TSC1 C165Y |
Transcript | NM_000368.5 |
gDNA | chr9:g.132923362C>T |
cDNA | c.494G>A |
Protein | p.C165Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000368 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
XM_006717271 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
XM_017015098.1 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
NM_001406593.1 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
NM_001406605.1 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
NM_001406596.1 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
XM_006717271.1 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
XM_011518979 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
NM_001406606.1 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
NM_001162426.2 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
XM_011518979.3 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
NM_001406595.1 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
NM_001406609.1 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
NM_001162426 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
NM_001406592.1 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
NM_001406598.1 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
XM_017015096.1 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
NM_001406597.1 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
XM_005272211 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
NM_001406607.1 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
NM_000368.4 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
NM_001406601.1 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
NM_001406599.1 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
XM_017015096 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
XM_017015097.1 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
NM_001406603.1 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
XM_011518979.2 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
XM_005272211.1 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
NM_001406602.1 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
NM_001162426.1 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
NM_001406604.1 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
NM_001406594.1 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
XM_017015097 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
XM_017015098 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
NM_000368.5 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
NM_001406600.1 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
NM_001406608.1 | chr9:g.132923362C>T | c.494G>A | p.C165Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
TSC1 C165Y | unknown |