PTPN22 c.205A>G ;(p.S69G)

Variant ID: 1-114401692-T-C

NM_015967.5(PTPN22):c.205A>G;(p.S69G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Rare Variants of Putative Candidate Genes Associated With Sporadic Meniere's Disease in East Asian Population.

Frontiers In Neurology
Oh, Eun Hye EH; Shin, Jin-Hong JH; Kim, Hyang-Sook HS; Cho, Jae Wook JW; Choi, Seo Young SY; Choi, Kwang-Dong KD; Rhee, Je-Keun JK; Lee, Seowhang S; Lee, Changwook C; Choi, Jae-Hwan JH
Publication Date: 2019

Variant appearance in text: PTPN22: 205A>G; Ser69Gly; rs202095629
PubMed Link: 32038468
Variant Present in the following documents:
  • Main text
  • fneur-10-01424.pdf
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: PTPN22: S69G
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
View BVdb publication page