PRRT2 c.529G>A ;(p.E177K)

Variant ID: 16-29824904-G-A

NM_145239.2(PRRT2):c.529G>A;(p.E177K)

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:

Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders.

Cns Neuroscience & Therapeutics
Zhao, Shao-Yun SY; Li, Li-Xi LX; Chen, Yu-Lan YL; Chen, Yi-Jun YJ; Liu, Gong-Lu GL; Dong, Hai-Lin HL; Chen, Dian-Fu DF; Li, Hong-Fu HF; Wu, Zhi-Ying ZY
Publication Date: 2020-01

Variant appearance in text: PRRT2: 529G>A
PubMed Link: 31124310
Variant Present in the following documents:
  • Main text
  • CNS-26-39.pdf
View BVdb publication page