PKD1 c.2249G>A ;(p.W750*)

Variant ID: 16-2164775-C-T

NM_001009944.2(PKD1):c.2249G>A;(p.W750*)

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:

Multiregion sequencing of sarcomatoid renal cell carcinoma arising from autosomal dominant polycystic kidney disease.

Molecular Genetics & Genomic Medicine
Lee, Elizabeth E; Guan, Peiyong P; Lim, Abner Herbert AH; Loh, Jui Wan JW; Tan, Grace Fangmin GF; Loh, Tracy T; Ng, Dave Yong Xiang DYX; Lee, Jing Yi JY; Goh, Shane S; Liu, Wei W; Ng, Cedric Chuan-Young CC; Teh, Bin Tean BT; Chan, Jason Yongsheng JY
Publication Date: 2022-03

Variant appearance in text: PKD1: 2249G>A
PubMed Link: 35122417
Variant Present in the following documents:
  • Main text
  • MGG3-10-e1853.pdf
View BVdb publication page