Genomic variant #0000782972

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.123508402_123508403insT
Reference Copied from the Exome Variant Server
DB-ID HYAL4_000010
Frequency 4/12514
Freq. EA 4/8252
Freq. AA 0/4262
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HYAL4 NM_012269.2 ?/? c.75_76insT r.(?) p.(Ile28Tyrfs*37)