Genomic variant #0000926908

Chromosome 9
DNA change (genomic) (Relative to hg19 / GRCh37) g.116135884_116135885insCC
Reference Copied from the Exome Variant Server
DB-ID HDHD3_000002
Frequency 6/12518
Freq. EA 6/8254
Freq. AA 0/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HDHD3 NM_031219.2 ?/? c.750_751insGG r.(?) p.(Leu251Glyfs*52)