Genomic variant #0000783016

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.123516947C>T
Reference Copied from the Exome Variant Server
DB-ID HYAL4_000054
Frequency 7/13006
Freq. EA 6/8600
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HYAL4 NM_012269.2 ?/? c.1184C>T r.(?) p.(Pro395Leu)