SCN1A c.1592G>A ;(p.R531K)

Variant ID: 2-166901623-C-T

NM_001165963.1(SCN1A):c.1592G>A;(p.R531K)

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:

Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.

Signal Transduction And Targeted Therapy
Chen, Min M; Yao, Chencheng C; Qin, Yingying Y; Cui, Xiuhong X; Li, Peng P; Ji, Zhiyong Z; Lin, Limei L; Wu, Haowei H; Zhou, Zhi Z; Gui, Yaoting Y; Li, Zheng Z; Gao, Fei F
Publication Date: 2022-01-03

Variant appearance in text: SCN1A: 1592G>A; Arg531Lys
PubMed Link: 34980881
Variant Present in the following documents:
  • 41392_2021_710_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page


Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.

Signal Transduction And Targeted Therapy
Chen, Min M; Yao, Chencheng C; Qin, Yingying Y; Cui, Xiuhong X; Li, Peng P; Ji, Zhiyong Z; Lin, Limei L; Wu, Haowei H; Zhou, Zhi Z; Gui, Yaoting Y; Li, Zheng Z; Gao, Fei F
Publication Date: 2022-01-03

Variant appearance in text: SCN1A: 1592G>A; Arg531Lys
PubMed Link: 34980881
Variant Present in the following documents:
  • 41392_2021_710_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page