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PKD1 c.9360_9362del ;(p.Y3120_E3121delins*)
Variant ID: 16-2152096-CTCG-C
NM_001009944.2(
PKD1
):c.9360_9362del;(p.Y3120_E3121delins*)
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:
Identification of a pathogenic mutation in a Chinese pedigree with polycystic kidney disease.
Molecular Medicine Reports
Dong, Kexian K; Miao, Huanhuan H; Jia, Xueyuan X; Wu, Jie J; Wu, Han H; Sun, Jiawei J; Ji, Wei W; Su, Hui H; Xu, Lidan L; Zhang, Xuelong X; Zhu, Siqi S; Ji, Guohua G; Guan, Rongwei R; Wang, Hao H; Bai, Jing J; Yu, Jingcui J; Sun, Wenjing W; Zhou, Xianli X; Fu, Songbin S
Publication Date: 2019-04
Variant appearance in text: PKD1: Y3120_E3121delinsX
PubMed Link:
30720121
Variant Present in the following documents:
Main text
mmr-19-04-2671.pdf
View BVdb publication page