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