Genomic variant #0001956627

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.19725236C>T
Reference Copied from the Exome Variant Server
DB-ID SH3KBP1_000101
Frequency 6/4525
Freq. EA 0/3107
Freq. AA 6/1418
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SH3KBP1 NM_031892.2 ?/? c.287-134G>A r.(=) p.(=)