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TET2 c.2179G>T ;(p.A727S)
Variant ID: 4-106157278-G-T
NM_001127208.2(
TET2
):c.2179G>T;(p.A727S)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.
Cancers
González-López, Oscar O; Muñoz-González, Javier I JI; Orfao, Alberto A; Álvarez-Twose, Iván I; García-Montero, Andrés C AC
Publication Date: 2022-05-18
Variant appearance in text: TET2: A727S
PubMed Link:
35626091
Variant Present in the following documents:
cancers-14-02487.pdf
View BVdb publication page
The Spectrum of Aggressive Mastocytosis: A Workshop Report and Literature Review.
Pathobiology : Journal Of Immunopathology, Molecular And Cellular Biology
Leguit, Roos R; Hebeda, Konnie K; Kremer, Marcus M; van der Walt, Jon J; Gianelli, Umberto U; Tzankov, Alexandar A; Orazi, Attilio A
Publication Date: 2020
Variant appearance in text: TET2: A727S
PubMed Link:
31802761
Variant Present in the following documents:
Main text
View BVdb publication page
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018
Variant appearance in text: TET2: 2179G>T; Ala727Ser; rs760672360
PubMed Link:
29641532
Variant Present in the following documents:
pone.0194098.s003.xlsx, sheet 6
View BVdb publication page