Genomic variant #0000140755

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.162487845_162487848del
Reference Copied from the Exome Variant Server
DB-ID UHMK1_000044
Frequency 27/12506
Freq. EA 17/8244
Freq. AA 10/4262
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
UHMK1 NM_175866.4 ?/? c.1025-47_1025-44del r.(=) p.(=)