SCN1A c.4262G>A ;(p.G1421E)

Variant ID: 2-166859004-C-T

NM_001165963.1(SCN1A):c.4262G>A;(p.G1421E)

This variant was identified in 3 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: G1421E; rs1064795756
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



L-Type Calcium Channel: Predicting Pathogenic/Likely Pathogenic Status for Variants of Uncertain Clinical Significance.

Membranes
Tarnovskaya, Svetlana I SI; Kostareva, Anna A AA; Zhorov, Boris S BS
Publication Date: 2021-08-07

Variant appearance in text: SCN1A: G1421E
PubMed Link: 34436362
Variant Present in the following documents:
  • Main text
  • membranes-11-00599.pdf
View BVdb publication page



Analysis of CRISPR-Cas9 screens identifies genetic dependencies in melanoma.

Pigment Cell & Melanoma Research
Christodoulou, Eirini E; Rashid, Mamunur M; Pacini, Clare C; Droop, Alastair A; Robertson, Holly H; Groningen, Tim van TV; Teunisse, Amina F A S AFAS; Iorio, Francesco F; Jochemsen, Aart G AG; Adams, David J DJ; Doorn, Remco van RV
Publication Date: 2021-01

Variant appearance in text: SCN1A: G1421E
PubMed Link: 32767816
Variant Present in the following documents:
  • PCMR-34-122-s006.xlsx, sheet 1
View BVdb publication page