PKD1 c.11143del ;(p.L3715Wfs*111)

Variant ID: 16-2142967-AG-A

NM_001009944.2(PKD1):c.11143del;(p.L3715Wfs*111)

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:

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: 11143_11143delC; L3715Wfs
PubMed Link: 34032358
Variant Present in the following documents:
  • Main text
  • JCMM-25-6318.pdf
View BVdb publication page