Genomic variant #0000782976

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.123508557_123508570del
Reference Copied from the Exome Variant Server
DB-ID HYAL4_000014
Frequency 5/12508
Freq. EA 3/8250
Freq. AA 2/4258
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HYAL4 NM_012269.2 ?/? c.230_243del r.(?) p.(Pro78Glnfs*27)