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Gene | ATM |
Variant | H1380Y |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATM H1380Y lies within the c-Abl binding domain of the Atm protein (PMID: 12969974). H1380Y results in defective c-Abl activation upon irradiation in cultured cells (PMID: 12969974), and therefore, is predicted to lead to a loss of Atm protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM H1380Y |
Transcript | NM_000051.4 |
gDNA | chr11:g.108289005C>T |
cDNA | c.4138C>T |
Protein | p.H1380Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011542843 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
XM_047426981.1 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
XM_017017791.1 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
XM_017017792.2 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
XM_017017791 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
XM_017017792 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108289005C>T | c.4138C>T | p.H1380Y | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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