Genomic variant #0001791362

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.49513212del
Reference Copied from the Exome Variant Server
DB-ID RUVBL2_000054
Frequency 11/12004
Freq. EA 7/8014
Freq. AA 4/3990
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RUVBL2 NM_006666.1 ?/? c.570-18del r.(=) p.(=)