PKD1 c.10552G>T ;(p.E3518*)

Variant ID: 16-2144159-C-A

NM_001009944.2(PKD1):c.10552G>T;(p.E3518*)

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:

Demographic and clinical characteristics of children with autosomal dominant polycystic kidney disease: a single center experience

Turkish Journal Of Medical Sciences
Kasap Demir, Belde B; Mutlubaş, Fatma F; Soyaltın, Eren E; Alparslan, Caner C; Arya, Merve M; Alaygut, Demet D; Arslansoyu Çamlar, Seçil S; Berdeli, Afig A; Yavaşcan, Önder Ö
Publication Date: 2021-04-30

Variant appearance in text: PKD1: 10552G>T; Glu3518X
PubMed Link: 33315352
Variant Present in the following documents:
  • Main text
  • turkjmedsci-51-772.pdf
View BVdb publication page