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Gene | ATM |
Variant | Q1919P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM Q1919P does not lie within any known functional domains of the Atm protein (UniProt.org). Q1919P has been identified in the scientific literature (PMID: 34911817), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM Q1919P |
Transcript | NM_000051.4 |
gDNA | chr11:g.108307978A>C |
cDNA | c.5756A>C |
Protein | p.Q1919P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |