Genomic variant #0000721470

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.4949509T>C
Reference Copied from the Exome Variant Server
DB-ID MMD2_000026
Frequency 1/12446
Freq. EA 1/8362
Freq. AA 0/4084
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
MMD2 NM_198403.3 ?/? c.537+3A>G r.spl? p.?