Genomic variant #0000782981

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.123508644del
Reference Copied from the Exome Variant Server
DB-ID HYAL4_000019
Frequency 3/12516
Freq. EA 0/8252
Freq. AA 3/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HYAL4 NM_012269.2 ?/? c.317del r.(?) p.(Val106Alafs*11)