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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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