Gene: TBC1D24 ×
Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs796053403
rs796053403
TBC1D24
1 16 2496622 frameshift variant C/- delins 0.700 1.000 11 2014 2017