Genomic variant #0000783010

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.123516916del
Reference Copied from the Exome Variant Server
DB-ID HYAL4_000048
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     
HYAL4 NM_012269.2 ?/? c.1153del r.(?) p.(Gly385Alafs*4)