PKD1 c.11257C>A ;(p.R3753=)

Variant ID: 16-2142493-G-T

NM_001009944.2(PKD1):c.11257C>A;(p.R3753=)

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:

Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease.

Rna Biology
Claverie-Martin, Felix F; Gonzalez-Paredes, Francisco J FJ; Ramos-Trujillo, Elena E
Publication Date: 2015

Variant appearance in text: PKD1: 11257C>A; R3753R
PubMed Link: 25757501
Variant Present in the following documents:
  • Main text
View BVdb publication page