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PKD1 c.10423C>T ;(p.Q3475*)
Variant ID: 16-2147225-G-A
NM_001009944.2(
PKD1
):c.10423C>T;(p.Q3475*)
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:
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07
Variant appearance in text: PKD1: 10423C>T; Gln3475Ter
PubMed Link:
31165590
Variant Present in the following documents:
MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page
Molecular genetic analysis of polycystic kidney disease 1 and polycystic kidney disease 2 mutations in pedigrees with autosomal dominant polycystic kidney disease.
Journal Of Research In Medical Sciences : The Official Journal Of Isfahan University Of Medical Sciences
Bitarafan, Fatemeh F; Garshasbi, Masoud M
Publication Date: 2019
Variant appearance in text: PKD1: 10423C>T; Gln3475Ter
PubMed Link:
31160911
Variant Present in the following documents:
Main text
JRMS-24-44.pdf
View BVdb publication page