Genomic variant #0000697315

Chromosome 6
DNA change (genomic) (Relative to hg19 / GRCh37) g.139488029C>T
Reference Copied from the Exome Variant Server
DB-ID HECA_000018
Frequency 1/13000
Freq. EA 0/8596
Freq. AA 1/4404
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HECA NM_016217.2 ?/? c.880C>T r.(?) p.(Leu294Phe)