Genomic variant #0000140763

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.162492171del
Reference Copied from the Exome Variant Server
DB-ID UHMK1_000052
Frequency 3/12520
Freq. EA 2/8254
Freq. AA 1/4266
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
UHMK1 NM_175866.4 ?/? c.1114-23del r.(=) p.(=)