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SCN5A c.4231C>T ;(p.L1411F)
Variant ID: 3-38601649-G-A
NM_000335.4(
SCN5A
):c.4231C>T;(p.L1411F)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Phenotypic and biochemical characteristics and molecular basis in 36 Chinese patients with androgen receptor variants.
Orphanet Journal Of Rare Diseases
Zhu, Hui H; Yao, Haijun H; Xu, Yue Y; Chen, Yan Y; Han, Bing B; Wang, Nan N; Wang, Hao H; Zhang, Qiang Q; Zhu, Wenjiao W; Shi, Yuanping Y; Sun, Hua H; Zhao, Shuangxia S; Song, Huaidong H; Liu, Yang Y; Qiao, Jie J
Publication Date: 2021-03-09
Variant appearance in text: SCN5A: 4231C>T
PubMed Link:
33750429
Variant Present in the following documents:
Main text
13023_2021_Article_1765.pdf
View BVdb publication page