TET2 c.652del ;(p.V218Wfs*32)

Variant ID: 4-106155751-CG-C

NM_001127208.2(TET2):c.652del;(p.V218Wfs*32)

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:

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
Publication Date: 2022-08

Variant appearance in text: TET2: V218Wfs*32
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page


Minor intron retention drives clonal hematopoietic disorders and diverse cancer predisposition.

Nature Genetics
Inoue, Daichi D; Polaski, Jacob T JT; Taylor, Justin J; Castel, Pau P; Chen, Sisi S; Kobayashi, Susumu S; Hogg, Simon J SJ; Hayashi, Yasutaka Y; Pineda, Jose Mario Bello JMB; El Marabti, Ettaib E; Erickson, Caroline C; Knorr, Katherine K; Fukumoto, Miki M; Yamazaki, Hiromi H; Tanaka, Atsushi A; Fukui, Chie C; Lu, Sydney X SX; Durham, Benjamin H BH; Liu, Bo B; Wang, Eric E; Mehta, Sanjoy S; Zakheim, Daniel D; Garippa, Ralph R; Penson, Alex A; Chew, Guo-Liang GL; McCormick, Frank F; Bradley, Robert K RK; Abdel-Wahab, Omar O
Publication Date: 2021-05

Variant appearance in text: TET2: V218Wfs*32
PubMed Link: 33846634
Variant Present in the following documents:
  • NIHMS1677478-supplement-Supplementary_Tables_1-10.xlsx, sheet 1
View BVdb publication page


Minor intron retention drives clonal hematopoietic disorders and diverse cancer predisposition.

Nature Genetics
Inoue, Daichi D; Polaski, Jacob T JT; Taylor, Justin J; Castel, Pau P; Chen, Sisi S; Kobayashi, Susumu S; Hogg, Simon J SJ; Hayashi, Yasutaka Y; Pineda, Jose Mario Bello JMB; El Marabti, Ettaib E; Erickson, Caroline C; Knorr, Katherine K; Fukumoto, Miki M; Yamazaki, Hiromi H; Tanaka, Atsushi A; Fukui, Chie C; Lu, Sydney X SX; Durham, Benjamin H BH; Liu, Bo B; Wang, Eric E; Mehta, Sanjoy S; Zakheim, Daniel D; Garippa, Ralph R; Penson, Alex A; Chew, Guo-Liang GL; McCormick, Frank F; Bradley, Robert K RK; Abdel-Wahab, Omar O
Publication Date: 2021-05

Variant appearance in text: TET2: V218Wfs*32
PubMed Link: 33846634
Variant Present in the following documents:
  • NIHMS1677478-supplement-Supplementary_Tables_1-10.xlsx, sheet 1
View BVdb publication page