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Gene | MLH1 |
Variant | H315Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MLH1 H315Y lies within the ATPase domain of the Mlh1 protein (PMID: 22753075). H315Y has not been characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, May 2025). |
Associated Drug Resistance | |
Category Variants Paths |
MLH1 mutant MLH1 H315Y |
Transcript | NM_000249.4 |
gDNA | chr3:g.37020368C>T |
cDNA | c.943C>T |
Protein | p.H315Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |