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SCN5A c.2262+3A>T
Variant ID: 3-38639217-T-A
NM_000335.4(
SCN5A
):c.2262+3A>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:
Case Report: A Novel Non-Canonical Splice Site Variant (c.1638+7T>C) in TRPM6 Cause Primary Homagnesemia With Secondary Hocalcemia.
Frontiers In Pediatrics
Song, Jiayu J; Lei, Juan J; Zhang, Jianxia J; Zhang, Aiqing A; Gan, Weihua W; Zheng, Bixia B; Wang, Chunli C; Gong, Jing J
Publication Date: 2022
Variant appearance in text: SCN5A: 2262+3A>T
PubMed Link:
35692977
Variant Present in the following documents:
fped-10-834241.pdf
View BVdb publication page
Case Report: A Novel Variant c.2262+3A>T of the SCN5A Gene Results in Intron Retention Associated With Incessant Ventricular Tachycardias.
Frontiers In Medicine
Yin, Jie J; Zhou, Jia J; Chen, Jinlong J; Xu, Ting T; Zhang, Zhongman Z; Zhang, Han H; Yuan, Chang C; Cheng, Xueying X; Qin, Yuming Y; Zheng, Bixia B; Wang, Chunli C; Yang, Shiwei S; Jia, Zhanjun Z
Publication Date: 2021
Variant appearance in text: SCN5A: 2262+3A>T
PubMed Link:
34422849
Variant Present in the following documents:
Main text
fmed-08-659119.pdf
View BVdb publication page