PKD1 c.10760C>T ;(p.A3587V)

Variant ID: 16-2143873-G-A

NM_001009944.2(PKD1):c.10760C>T;(p.A3587V)

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: 10760C>T; A3587V
PubMed Link: 35620448
Variant Present in the following documents:
  • Main text
  • fnmol-15-861159.pdf
View BVdb publication page