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: SCN5A: R1027P; rs763891399

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

The voltage-gated sodium channel EF-hands form an interaction with the III-IV linker that is disturbed by disease-causing mutations.

Scientific Reports

Gardill, Bernd R BR; Rivera-Acevedo, Ricardo E RE; Tung, Ching-Chieh CC; Okon, Mark M; McIntosh, Lawrence P LP; Van Petegem, Filip F

Publication Date: 2018-03-14

Variant appearance in text: rs763891399

PubMed Link: 29540853

Variant Present in the following documents:

• Main text
• 41598_2018_Article_22713.pdf

View BVdb publication page