Genomic variant #0000782975

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.123508540G>A
Reference Copied from the Exome Variant Server
DB-ID HYAL4_000013
Frequency 1/13000
Freq. EA 0/8598
Freq. AA 1/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HYAL4 NM_012269.2 ?/? c.213G>A r.(?) p.(Met71Ile)