Genomic variant #0001199680

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.50135877C>T
Reference Copied from the Exome Variant Server
DB-ID TMBIM6_000001
Frequency 1/11982
Freq. EA 1/8200
Freq. AA 0/3782
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TMBIM6 NM_003217.2 ?/? c.-31+483C>T r.(=) p.(=)