Genomic variant #0000782966

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.123508349C>T
Reference Copied from the Exome Variant Server
DB-ID HYAL4_000004
Frequency 1/13004
Freq. EA 0/8600
Freq. AA 1/4404
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HYAL4 NM_012269.2 ?/? c.22C>T r.(?) p.(Gln8*)