Genomic variant #0001199733

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.50152553_50152554del
Reference Copied from the Exome Variant Server
DB-ID TMBIM6_000054
Frequency 2/12518
Freq. EA 2/8254
Freq. AA 0/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TMBIM6 NM_003217.2 ?/? c.513+8_513+9del r.(=) p.(=)