Genomic variant #0001447307

Chromosome 16
DNA change (genomic) (Relative to hg19 / GRCh37) g.1867234C>T
Reference Copied from the Exome Variant Server
DB-ID HAGH_000054
Frequency 1/12998
Freq. EA 1/8600
Freq. AA 0/4398
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HAGH NM_005326.4 ?/? c.580G>A r.(?) p.(Glu194Lys)