Genomic variant #0000782991

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.123508985T>C
Reference Copied from the Exome Variant Server
DB-ID HYAL4_000029
Frequency 2/13006
Freq. EA 2/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HYAL4 NM_012269.2 ?/? c.658T>C r.(?) p.(Tyr220His)