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ATP2B2 c.3238-167A>T
Variant ID: 3-10380209-T-A
NM_001001331.2(
ATP2B2
):c.3238-167A>T
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:
Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.
Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11
Variant appearance in text: rs28131
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.
Plos One
Lei, Peiliang P; Zhu, Qingwen Q; Dong, Wenrong W; Zhang, Siqi S; Sun, Yanyan Y; Du, Xitong X; Geng, Meng M; Jiang, Yuan Y
Publication Date: 2022
Variant appearance in text: rs28131
PubMed Link:
36350814
Variant Present in the following documents:
pone.0276233.s004.xlsx, sheet 1
View BVdb publication page
A novel splice site variant c.1183ā+ā1 Gā>āC in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.
Bmc Medical Genomics
Li, Qiong Q; Wang, Shujuan S; Liang, Pengfei P; Li, Wei W; Wang, Jian J; Fan, Bei B; Yang, Yang Y; An, Xiaogang X; Chen, Jun J; Zha, Dingjun D
Publication Date: 2022-07-21
Variant appearance in text: rs28131
PubMed Link:
35864542
Variant Present in the following documents:
12920_2022_1315_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page