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Gene | ATM |
Variant | L259I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM L259I does not lie within any known functional domains of the Atm protein (UniProt.org). L259I has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM L259I |
Transcript | NM_000051.4 |
gDNA | chr11:g.108244900C>A |
cDNA | c.775C>A |
Protein | p.L259I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011542843 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
XM_047426975.1 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
XM_017017792.2 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
XM_005271562 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
XM_011542845.2 | chr11:g.108253998_108254000delCTGinsATC | c.775_777delCTGinsATC | p.L259I | RefSeq | GRCh38/hg38 |
XM_017017790.3 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
XM_011542845 | chr11:g.108253998_108254000delCTGinsATC | c.775_777delCTGinsATC | p.L259I | RefSeq | GRCh38/hg38 |
XM_017017790 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
XM_017017789.2 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
XM_011542840.4 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
XM_017017791.1 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
XM_011542843.2 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
XM_005271562.6 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
XM_006718843.4 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
NM_000051.3 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
XM_017017791 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
XM_017017790.2 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
XM_047426981.1 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
XM_017017792 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
XM_005271561 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
NM_000051.4 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
XM_005271562.5 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
XM_017017789 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
NM_000051 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
XM_006718843.5 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
NM_001351834.2 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
XM_011542840 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
NM_001351834.1 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
XM_011542840.3 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
XM_006718843 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
XM_011542843.3 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
XM_047426976.1 | chr11:g.108244900C>A | c.775C>A | p.L259I | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ATM L259I | unknown |