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PKD1 c.10107C>T ;(p.S3369=)
Variant ID: 16-2147929-G-A
NM_001009944.2(
PKD1
):c.10107C>T;(p.S3369=)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System.
Plos One
Kinoshita, Moritoshi M; Higashihara, Eiji E; Kawano, Haruna H; Higashiyama, Ryo R; Koga, Daisuke D; Fukui, Takafumi T; Gondo, Nobuhisa N; Oka, Takehiko T; Kawahara, Kozo K; Rigo, Krisztina K; Hague, Tim T; Katsuragi, Kiyonori K; Sudo, Kimiyoshi K; Takeshi, Masahiko M; Horie, Shigeo S; Nutahara, Kikuo K
Publication Date: 2016
Variant appearance in text: PKD1: 10107C>T
PubMed Link:
27835667
Variant Present in the following documents:
pone.0166288.s005.xls, sheet 1
View BVdb publication page
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: S3369S
PubMed Link:
15018634
Variant Present in the following documents:
Main text
View BVdb publication page