PTEN, phosphatase and tensin homolog, 5728

N. diseases: 107; N. variants: 343
Disease: Bannayan-Riley-Ruvalcaba Syndrome ×
Source: CLINVAR ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs863224909
rs863224909 		0.732 0.360 10 87960952 stop gained C/A;G snv
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0