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Gene | ATM |
Variant | S421* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATM S421* results in a premature truncation of the Atm protein at amino acid 421 of 3056 (UniProt.org). S421* has not been characterized, however, due to the effects of other truncation mutations downstream of S421 (PMID: 16603769), is predicted to lead to a loss of Atm protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM S421* |
Transcript | NM_000051.4 |
gDNA | chr11:g.108250727C>A |
cDNA | c.1262C>A |
Protein | p.S421* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017017790.2 | chr11:g.108250727C>A | c.1262C>A | p.S421* | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108250727C>A | c.1262C>A | p.S421* | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108250727C>A | c.1262C>A | p.S421* | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108250727C>A | c.1262C>A | p.S421* | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108250727C>A | c.1262C>A | p.S421* | RefSeq | GRCh38/hg38 |
XM_017017792.2 | chr11:g.108250727C>A | c.1262C>A | p.S421* | RefSeq | GRCh38/hg38 |
XM_047426981.1 | chr11:g.108250727C>A | c.1262C>A | p.S421* | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108250727C>A | c.1262C>A | p.S421* | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108250727C>A | c.1262C>A | p.S421* | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108250727C>A | c.1262C>A | p.S421* | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108250727C>A | c.1262C>A | p.S421* | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108250727C>A | c.1262C>A | p.S421* | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108250727C>A | c.1262C>A | p.S421* | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108250727C>A | c.1262C>A | p.S421* | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108250727C>A | c.1262C>A | p.S421* | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108250727C>A | c.1262C>A | p.S421* | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108250727C>A | c.1262C>A | p.S421* | RefSeq | GRCh38/hg38 |
XM_017017791.1 | chr11:g.108250727C>A | c.1262C>A | p.S421* | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108250727C>A | c.1262C>A | p.S421* | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108250727C>A | c.1262C>A | p.S421* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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