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RB1 c.718+312A>T
Variant ID: 13-48934575-A-T
NM_000321.2(
RB1
):c.718+312A>T
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.
Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11
Variant appearance in text: rs198619
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.
Frontiers In Pediatrics
Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y
Publication Date: 2022
Variant appearance in text: RB1: 718+312A>T; rs198619
PubMed Link:
35899134
Variant Present in the following documents:
Table_1.xlsx, sheet 1
View BVdb publication page
Single-nucleotide polymorphisms in the RB1 gene and association with breast cancer in the British population.
British Journal Of Cancer
Lesueur, F F; Song, H H; Ahmed, S S; Luccarini, C C; Jordan, C C; Luben, R R; Easton, D F DF; Dunning, A M AM; Pharoah, P D PD; Ponder, B A J BA
Publication Date: 2006-06-19
Variant appearance in text: rs198619
PubMed Link:
16685266
Variant Present in the following documents:
Main text
94-6603160a.pdf
View BVdb publication page