Genomic variant #0001956580

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.19606954C>T
Reference Copied from the Exome Variant Server
DB-ID SH3KBP1_000054
Frequency 82/10563
Freq. EA 74/6728
Freq. AA 8/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SH3KBP1 NM_031892.2 ?/? c.1139-34G>A r.(=) p.(=)