Genomic variant #0001199684

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.50135995_50135996del
Reference Copied from the Exome Variant Server
DB-ID TMBIM6_000005
Frequency 2/11548
Freq. EA 1/7872
Freq. AA 1/3676
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+601_-31+602del r.(=) p.(=)