Genomic variant #0000140718

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.162467935del
Reference Copied from the Exome Variant Server
DB-ID UHMK1_000007
Frequency 75/12400
Freq. EA 46/8200
Freq. AA 29/4200
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
UHMK1 NM_175866.4 ?/? c.145del r.(?) p.(Gly51Alafs*40)