PKD1 c.8858A>G ;(p.N2953S)

Variant ID: 16-2152905-T-C

NM_001009944.2(PKD1):c.8858A>G;(p.N2953S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: PKD1: 8858A>G; Asn2953Ser; rs780080465
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.

Molecular Genetics & Genomic Medicine
Trujillano, Daniel D; Bullich, Gemma G; Ossowski, Stephan S; Ballarín, José J; Torra, Roser R; Estivill, Xavier X; Ars, Elisabet E
Publication Date: 2014-09

Variant appearance in text: PKD1: 8858A>G; Asn2953Ser
PubMed Link: 25333066
Variant Present in the following documents:
  • Main text
  • mgg30002-0412.pdf
View BVdb publication page