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Gene | ATM |
Variant | S978C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM S978C does not lie within any known functional domains of the Atm protein (UniProt.org). S978C has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM S978C |
Transcript | NM_000051.4 |
gDNA | chr11:g.108271262C>G |
cDNA | c.2933C>G |
Protein | p.S978C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017017790 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
XM_017017792.2 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
XM_017017792 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
XM_047426981.1 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
XM_017017791 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
XM_011542843 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
XM_011542845 | chr11:g.108289606C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
XM_011542845.2 | chr11:g.108289606C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
XM_017017791.1 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108271262C>G | c.2933C>G | p.S978C | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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