PRRT2 c.439G>T ;(p.D147Y)

Variant ID: 16-29824814-G-T

NM_145239.2(PRRT2):c.439G>T;(p.D147Y)

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:

FGF14-related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9.

Annals Of Clinical And Translational Neurology
Piarroux, Julie J; Riant, Florence F; Humbertclaude, Véronique V; Remerand, Ganaelle G; Hadjadj, Jessica J; Rejou, Franck F; Coubes, Christine C; Pinson, Lucile L; Meyer, Pierre P; Roubertie, Agathe A
Publication Date: 2020-04

Variant appearance in text: PRRT2: 439G>T
PubMed Link: 32162847
Variant Present in the following documents:
  • Main text
View BVdb publication page