Bibliome.ai browser hg19
Search
About
Stats
FAQ
AK2 c.*3132A>G
Variant ID: 1-33475650-T-C
NM_001625.3(
AK2
):c.*3132A>G
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:
Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.
Scientific Reports
Zhao, Jing J; Zhang, Siqi S; Jiang, Yuan Y; Liu, Yan Y; Wang, Jiantao J; Zhu, QingWen Q
Publication Date: 2022-12-23
Variant appearance in text: rs141799861
PubMed Link:
36564540
Variant Present in the following documents:
41598_2022_26850_MOESM3_ESM.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: rs141799861
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: rs141799861
PubMed Link:
35864542
Variant Present in the following documents:
12920_2022_1315_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page