PRRT2 c.772G>C ;(p.G258R)

Variant ID: 16-29825147-G-C

NM_145239.2(PRRT2):c.772G>C;(p.G258R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: PRRT2: G258R
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders.

Plos One
Huguet, Guillaume G; Nava, Caroline C; Lemière, Nathalie N; Patin, Etienne E; Laval, Guillaume G; Ey, Elodie E; Brice, Alexis A; Leboyer, Marion M; Szepetowski, Pierre P; Gillberg, Christopher C; Depienne, Christel C; Delorme, Richard R; Bourgeron, Thomas T
Publication Date: 2014

Variant appearance in text: PRRT2: G258R
PubMed Link: 24594579
Variant Present in the following documents:
  • Main text
  • pone.0088600.pdf
View BVdb publication page