Genomic variant #0001208179

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.53715153_53715154insC
Reference Copied from the Exome Variant Server
DB-ID AAAS_000118
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     
AAAS NM_001173466.1 ?/? c.96_97insG r.(?) p.(Ser33Glufs*54)