PKD1 c.6549_6550del ;(p.E2184Vfs*77)

Variant ID: 16-2158618-TCA-T

NM_001009944.2(PKD1):c.6549_6550del;(p.E2184Vfs*77)

This variant was identified in 1 publication

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: 6549_6550delTG; E2184Vfs
PubMed Link: 34032358
Variant Present in the following documents:
  • Main text
  • JCMM-25-6318.pdf
View BVdb publication page