SCN1A c.5179G>T ;(p.D1727Y)

Variant ID: 2-166848606-C-A

NM_001165963.1(SCN1A):c.5179G>T;(p.D1727Y)

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: SCN1A: D1727Y
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.

Frontiers In Neurology
Gonsales, Marina C MC; Montenegro, Maria Augusta MA; Preto, Paula P; Guerreiro, Marilisa M MM; Coan, Ana Carolina AC; Quast, Monica Paiva MP; Carvalho, Benilton S BS; Lopes-Cendes, Iscia I
Publication Date: 2019

Variant appearance in text: SCN1A: 5179G>T
PubMed Link: 31001185
Variant Present in the following documents:
  • Main text
  • fneur-10-00289.pdf
View BVdb publication page