SI c.2675T>C ;(p.V892A)

Variant ID: 3-164750371-A-G

NM_001041.3(SI):c.2675T>C;(p.V892A)

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: SI: V892A; rs758186369
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Genomic mutation profile in progressive chronic lymphocytic leukemia patients prior to first-line chemoimmunotherapy with FCR and rituximab maintenance (REM).

Plos One
González-Rincón, Julia J; Garcia-Vela, José A JA; Gómez, Sagrario S; Fernández-Cuevas, Belén B; Nova-Gurumeta, Sara S; Pérez-Sanz, Nuria N; Alcoceba, Miguel M; González, Marcos M; Anguita, Eduardo E; López-Jiménez, Javier J; González-Barca, Eva E; Yáñez, Lucrecia L; Pérez-Persona, Ernesto E; de la Serna, Javier J; Fernández-Zarzoso, Miguel M; Deben, Guillermo G; Peñalver, Francisco J FJ; Fernández, María C MC; de Oteyza, Jaime Pérez JP; Andreu, M Ángeles MÁ; Ruíz-Guinaldo, M Ángeles MÁ; Paz-Arias, Raquel R; García-Malo, M Dolores MD; Recasens, Valle V; Collado, Rosa R; Córdoba, Raúl R; Navarro-Matilla, Belén B; Sánchez-Beato, Margarita M; García-Marco, José A JA
Publication Date: 2021

Variant appearance in text: SI: Val892Ala
PubMed Link: 34506616
Variant Present in the following documents:
  • pone.0257353.s001.xlsx, sheet 3
View BVdb publication page