PKD1 c.1dup ;(p.M1Nfs*?)

Variant ID: 16-2185689-A-AT

NM_001009944.2(PKD1):c.1dup;(p.M1Nfs*?)

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:

Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated.

Bmc Medical Genetics
Cabrera-López, Cristina C; Bullich, Gemma G; Martí, Teresa T; Català, Violeta V; Ballarín, Jose J; Bissler, John J JJ; Harris, Peter C PC; Ars, Elisabet E; Torra, Roser R
Publication Date: 2015-06-17

Variant appearance in text: PKD1: Met1fs
PubMed Link: 26077033
Variant Present in the following documents:
  • Main text
  • 12881_2015_Article_185.pdf
View BVdb publication page