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COL1A2 c.2565+233G>A
Variant ID: 7-94052663-G-A
NM_000089.3(
COL1A2
):c.2565+233G>A
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: rs42531
PubMed Link:
36564540
Variant Present in the following documents:
41598_2022_26850_MOESM3_ESM.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: rs42531
PubMed Link:
35864542
Variant Present in the following documents:
12920_2022_1315_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Candidate gene analysis in israeli soldiers with stress fractures.
Journal Of Sports Science & Medicine
Yanovich, Ran R; Friedman, Eitan E; Milgrom, Roni R; Oberman, Bernice B; Freedman, Laurence L; Moran, Daniel S DS
Publication Date: 2012
Variant appearance in text: rs42531
PubMed Link:
24149131
Variant Present in the following documents:
Main text
View BVdb publication page