PKD1 c.3362G>A ;(p.S1121N)

Variant ID: 16-2161806-C-T

NM_001009944.2(PKD1):c.3362G>A;(p.S1121N)

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:

Recessive PKD1 Mutations Are Associated With Febrile Seizures and Epilepsy With Antecedent Febrile Seizures and the Genotype-Phenotype Correlation.

Frontiers In Molecular Neuroscience
Wang, Jing-Yang JY; Wang, Jie J; Lu, Xin-Guo XG; Song, Wang W; Luo, Sheng S; Zou, Dong-Fang DF; Hua, Li-Dong LD; Peng, Qian Q; Tian, Yang Y; Gao, Liang-Di LD; Liao, Wei-Ping WP; He, Na N
Publication Date: 2022

Variant appearance in text: PKD1: 3362G>A; S1121N
PubMed Link: 35620448
Variant Present in the following documents:
  • Main text
  • fnmol-15-861159.pdf
View BVdb publication page