Genomic variant #0001199746

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.50155508A>C
Reference Copied from the Exome Variant Server
DB-ID TMBIM6_000067
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     
TMBIM6 NM_003217.2 ?/? c.636A>C r.(?) p.(Leu212Phe)