Genomic variant #0001956615

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.19713122C>T
Reference Copied from the Exome Variant Server
DB-ID SH3KBP1_000089
Frequency 1/4522
Freq. EA 1/3104
Freq. AA 0/1418
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SH3KBP1 NM_031892.2 ?/? c.520+608G>A r.(=) p.(=)