Genomic variant #0001344416

Chromosome 14
DNA change (genomic) (Relative to hg19 / GRCh37) g.77769309_77769310insG
Reference Copied from the Exome Variant Server
DB-ID POMT2_000151
Frequency 2/12518
Freq. EA 0/8254
Freq. AA 2/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
POMT2 NM_013382.5 ?/? c.548-24_548-23insC r.(=) p.(=)