Genomic variant #0001956602

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.19650017T>C
Reference Copied from the Exome Variant Server
DB-ID SH3KBP1_000076
Frequency 1/10561
Freq. EA 0/6728
Freq. AA 1/3833
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SH3KBP1 NM_031892.2 ?/? c.862A>G r.(?) p.(Ile288Val)