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.




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