Genomic variant #0000697302

Chromosome 6
DNA change (genomic) (Relative to hg19 / GRCh37) g.139456680_139456681del
Reference Copied from the Exome Variant Server
DB-ID HECA_000005
Frequency 17/112
Freq. EA 10/70
Freq. AA 7/42
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HECA NM_016217.2 ?/? c.147_148del r.(?) p.(Cys50Argfs*54)