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Gene | TSC1 |
Variant | A1072V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TSC1 A1072V does not lie within any known functional domains of the Tsc1 protein (UniProt.org). A1072V 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 A1072V |
Transcript | NM_000368.5 |
gDNA | chr9:g.132896515G>A |
cDNA | c.3215C>T |
Protein | p.A1072V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406596.1 | chr9:g.132896515G>A | c.3215C>T | p.A1072V | RefSeq | GRCh38/hg38 |
NM_001406594.1 | chr9:g.132896515G>A | c.3215C>T | p.A1072V | RefSeq | GRCh38/hg38 |
XM_011518979.2 | chr9:g.132896515G>A | c.3215C>T | p.A1072V | RefSeq | GRCh38/hg38 |
XM_017015096 | chr9:g.132896515G>A | c.3215C>T | p.A1072V | RefSeq | GRCh38/hg38 |
NM_000368.5 | chr9:g.132896515G>A | c.3215C>T | p.A1072V | RefSeq | GRCh38/hg38 |
NM_000368.4 | chr9:g.132896515G>A | c.3215C>T | p.A1072V | RefSeq | GRCh38/hg38 |
XM_017015097.1 | chr9:g.132896515G>A | c.3215C>T | p.A1072V | RefSeq | GRCh38/hg38 |
NM_001406595.1 | chr9:g.132896515G>A | c.3215C>T | p.A1072V | RefSeq | GRCh38/hg38 |
XM_017015097 | chr9:g.132896515G>A | c.3215C>T | p.A1072V | RefSeq | GRCh38/hg38 |
XM_006717271 | chr9:g.132896515G>A | c.3215C>T | p.A1072V | RefSeq | GRCh38/hg38 |
XM_005272211 | chr9:g.132896515G>A | c.3215C>T | p.A1072V | RefSeq | GRCh38/hg38 |
XM_011518979.3 | chr9:g.132896515G>A | c.3215C>T | p.A1072V | RefSeq | GRCh38/hg38 |
XM_017015096.1 | chr9:g.132896515G>A | c.3215C>T | p.A1072V | RefSeq | GRCh38/hg38 |
NM_001406593.1 | chr9:g.132896515G>A | c.3215C>T | p.A1072V | RefSeq | GRCh38/hg38 |
XM_005272211.1 | chr9:g.132896515G>A | c.3215C>T | p.A1072V | RefSeq | GRCh38/hg38 |
NM_000368 | chr9:g.132896515G>A | c.3215C>T | p.A1072V | RefSeq | GRCh38/hg38 |
XM_011518979 | chr9:g.132896515G>A | c.3215C>T | p.A1072V | RefSeq | GRCh38/hg38 |
NM_001406592.1 | chr9:g.132896515G>A | c.3215C>T | p.A1072V | RefSeq | GRCh38/hg38 |
XM_006717271.1 | chr9:g.132896515G>A | c.3215C>T | p.A1072V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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