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PKD1 c.9947G>A ;(p.S3316N)
Variant ID: 16-2149748-C-T
NM_001009944.2(
PKD1
):c.9947G>A;(p.S3316N)
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:
Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP).
Bmc Medical Genetics
Thongnoppakhun, Wanna W; Limwongse, Chanin C; Vareesangthip, Kriengsak K; Sirinavin, Chintana C; Bunditworapoom, Duangkamon D; Rungroj, Nanyawan N; Yenchitsomanus, Pa-thai PT
Publication Date: 2004-02-03
Variant appearance in text: PKD1: S3316N
PubMed Link:
15018634
Variant Present in the following documents:
Main text
1471-2350-5-2.pdf
View BVdb publication page