PKD1 c.12745C>T ;(p.R4249C)

Variant ID: 16-2139895-G-A

NM_001009944.2(PKD1):c.12745C>T;(p.R4249C)

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:

Somatic Genetic Variation in Solid Pseudopapillary Tumor of the Pancreas by Whole Exome Sequencing.

International Journal Of Molecular Sciences
Guo, Meng M; Luo, Guopei G; Jin, Kaizhou K; Long, Jiang J; Cheng, He H; Lu, Yu Y; Wang, Zhengshi Z; Yang, Chao C; Xu, Jin J; Ni, Quanxing Q; Yu, Xianjun X; Liu, Chen C
Publication Date: 2017-01-03

Variant appearance in text: PKD1: Arg4249Cys
PubMed Link: 28054945
Variant Present in the following documents:
  • Main text
  • ijms-18-00081.pdf
View BVdb publication page