Genomic variant #0001344347

Chromosome 14
DNA change (genomic) (Relative to hg19 / GRCh37) g.77751832_77751843del
Reference Copied from the Exome Variant Server
DB-ID POMT2_000082
Frequency 9/12518
Freq. EA 6/8254
Freq. AA 3/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
POMT2 NM_013382.5 ?/? c.1465_1476del r.(?) p.(Gly489_Leu492del)