Genomic variant #0000782025

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.121773744_121773745insCA
Reference Copied from the Exome Variant Server
DB-ID AASS_000171
Frequency 1/12518
Freq. EA 0/8254
Freq. AA 1/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AASS NM_005763.3 ?/? c.36_37insTG r.(?) p.(Gly13Trpfs*22)