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TET2 c.3055G>A ;(p.V1019M)
Variant ID: 4-106158154-G-A
NM_001127208.2(
TET2
):c.3055G>A;(p.V1019M)
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:
A Functional Variant Rs492554 Associated With Congenital Heart Defects Modulates SESN2 Expression Through POU2F1.
Frontiers In Cell And Developmental Biology
Yang, Wenke W; Li, Yi Y; Bai, Jun J; You, Tao T; Yi, Kang K; Xie, Dingxiong D; Zhang, Xiaowei X; Xie, Xiaodong X
Publication Date: 2021
Variant appearance in text: TET2: V1019M
PubMed Link:
34249922
Variant Present in the following documents:
Table_1.xls, sheet 1
View BVdb publication page
Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.
Plos One
Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD
Publication Date: 2019
Variant appearance in text: TET2: 3055G>A; Val1019Met
PubMed Link:
30608972
Variant Present in the following documents:
pone.0210079.s007.xlsx, sheet 22
View BVdb publication page