Genomic variant #0000358124

Chromosome 3
DNA change (genomic) (Relative to hg19 / GRCh37) g.37048495G>C
Reference Copied from the Exome Variant Server
DB-ID MLH1_000029
Frequency 1/13006
Freq. EA 1/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
MLH1 NM_000249.3 ?/? c.394G>C r.(?) p.(Asp132His)