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PKD1 c.301A>G ;(p.N101D)
Variant ID: 16-2169173-T-C
NM_001009944.2(
PKD1
):c.301A>G;(p.N101D)
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: N101D
PubMed Link:
25757501
Variant Present in the following documents:
Main text
View BVdb publication page