Genomic variant #0000177805

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.217783721C>T
Reference Copied from the Exome Variant Server
DB-ID GPATCH2_000032
Frequency 1/13006
Freq. EA 1/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GPATCH2 NM_018040.2 ?/? c.1040G>A r.(?) p.(Arg347His)