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.




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