Bibliome.ai browser hg19
Search
About
Stats
FAQ
PKD1 c.1380C>A ;(p.V460=)
Variant ID: 16-2167495-G-T
NM_001009944.2(
PKD1
):c.1380C>A;(p.V460=)
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:
Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair.
Human Mutation
Chuzhanova, Nadia N; Chen, Jian-Min JM; Bacolla, Albino A; Patrinos, George P GP; FĂ©rec, Claude C; Wells, Robert D RD; Cooper, David N DN
Publication Date: 2009-08
Variant appearance in text: PKD1: V460V
PubMed Link:
19431182
Variant Present in the following documents:
Main text
View BVdb publication page