RYR1 c.3485C>T ;(p.T1162I)

Variant ID: 19-38959709-C-T

NM_000540.2(RYR1):c.3485C>T;(p.T1162I)

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: RYR1: T1162I; rs1280346095
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Early Findings in Neonatal Cases of RYR1-Related Congenital Myopathies.

Frontiers In Neurology
Mauri, Eleonora E; Piga, Daniela D; Govoni, Alessandra A; Brusa, Roberta R; Pagliarani, Serena S; Ripolone, Michela M; Dilena, Robertino R; Cinnante, Claudia C; Sciacco, Monica M; Cassandrini, Denise D; Nigro, Vincenzo V; Bresolin, Nereo N; Corti, Stefania S; Comi, Giacomo P GP; Magri, Francesca F
Publication Date: 2021

Variant appearance in text: RYR1: 3485C>T; Thr1162Ile
PubMed Link: 34262519
Variant Present in the following documents:
  • Main text
  • fneur-12-664618.pdf
View BVdb publication page