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Gene | ATM |
Variant | Y2470D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM Y2470D lies within the FAT domain of the Atm protein (UniProt.org). Y2470D results in decreased Atm expression in cultured cells (PMID: 9887333), but has not been fully biochemically characterized and therefore, its effect on Atm protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM Y2470D |
Transcript | NM_000051.4 |
gDNA | chr11:g.108330314T>G |
cDNA | c.7408T>G |
Protein | p.Y2470D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |