PKD1 c.5974T>C ;(p.F1992L)

Variant ID: 16-2159194-A-G

NM_001009944.2(PKD1):c.5974T>C;(p.F1992L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Naturally occurring mutations alter the stability of polycystin-1 polycystic kidney disease (PKD) domains.

The Journal Of Biological Chemistry
Ma, Liang L; Xu, Meixiang M; Forman, Julia R JR; Clarke, Jane J; Oberhauser, Andres F AF
Publication Date: 2009-11-20

Variant appearance in text: PKD1: F1992L
PubMed Link: 19759016
Variant Present in the following documents:
  • Main text
  • zbc32942.pdf
View BVdb publication page



Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.

American Journal Of Human Genetics
Rossetti, S S; Strmecki, L L; Gamble, V V; Burton, S S; Sneddon, V V; Peral, B B; Roy, S S; Bakkaloglu, A A; Komel, R R; Winearls, C G CG; Harris, P C PC
Publication Date: 2001-01

Variant appearance in text: PKD1: F1992L
PubMed Link: 11115377
Variant Present in the following documents:
  • Main text
View BVdb publication page