Gene: CYCTP ×
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: rs202117698
rs202117698
PDE11A ; CYCTP
1 1.000 0.040 2 178104443 frameshift variant CT/- delins 3.0E-03 2.6E-03 0.700 1.000 1 2006 2006