PRRT2 c.467T>G ;(p.L156R)

Variant ID: 16-29824842-T-G

NM_145239.2(PRRT2):c.467T>G;(p.L156R)

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:

mTOR inhibitors may benefit kidney transplant recipients with mitochondrial diseases.

Kidney International
Johnson, Simon C SC; Martinez, Frank F; Bitto, Alessandro A; Gonzalez, Brenda B; Tazaerslan, Cagdas C; Cohen, Camille C; Delaval, Laure L; Timsit, José J; Knebelmann, Bertrand B; Terzi, Fabiola F; Mahal, Tarika T; Zhu, Yizhou Y; Morgan, Philip G PG; Sedensky, Margaret M MM; Kaeberlein, Matt M; Legendre, Christophe C; Suh, Yousin Y; Canaud, Guillaume G
Publication Date: 2019-02

Variant appearance in text: PKC: L156R
PubMed Link: 30471880
Variant Present in the following documents:
  • Main text
View BVdb publication page