PKD1 c.7670A>G ;(p.D2557G)

Variant ID: 16-2156125-T-C

NM_001009944.2(PKD1):c.7670A>G;(p.D2557G)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Comprehensive strategy improves the genetic diagnosis of different polycystic kidney diseases.

Journal Of Cellular And Molecular Medicine
Hu, Hua-Ying HY; Zhang, Jing J; Qiu, Wei W; Liang, Chao C; Li, Cun-Xi CX; Wei, Tian-Ying TY; Feng, Zhan-Ke ZK; Guo, Qing Q; Yang, Kai K; Liu, Zu-Guo ZG
Publication Date: 2021-05-25

Variant appearance in text: PKD1: D2557G
PubMed Link: 34032358
Variant Present in the following documents:
  • Main text
  • JCMM-25-6318.pdf
View BVdb publication page



Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.

Scientific Reports
Kim, Hyunsuk H; Park, Hayne Cho HC; Ryu, Hyunjin H; Kim, Hyunho H; Lee, Hyun-Seob HS; Heo, Jongho J; Lee, Chung C; Kim, Nayoung K D NKD; Park, Woong-Yang WY; Hwang, Young-Hwan YH; Lee, Kyu Beck KB; Oh, Kook-Hwan KH; Oh, Yun Kyu YK; Ahn, Curie C
Publication Date: 2019-11-18

Variant appearance in text: PKD1: 7670A>G; Asp2557Gly
PubMed Link: 31740684
Variant Present in the following documents:
  • 41598_2019_52474_MOESM1_ESM.pdf
View BVdb publication page



Congenital hepatic fibrosis with polycystic kidney disease: Two case reports.

Medicine
Jiang, Chang C; Zhou, Qiang Q; Jin, Meishan M; Niu, Junqi J; Gao, Yanhang Y
Publication Date: 2019-05

Variant appearance in text: PKD1: 7670A>G; Asp2557Gly
PubMed Link: 31096464
Variant Present in the following documents:
  • Main text
  • medi-98-e15600.pdf
View BVdb publication page



Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing.

Journal Of The American Society Of Nephrology : Jasn
Lanktree, Matthew B MB; Haghighi, Amirreza A; Guiard, Elsa E; Iliuta, Ioan-Andrei IA; Song, Xuewen X; Harris, Peter C PC; Paterson, Andrew D AD; Pei, York Y
Publication Date: 2018-10

Variant appearance in text: PKD1: Asp2557Gly; rs757619679
PubMed Link: 30135240
Variant Present in the following documents:
  • Main text
View BVdb publication page