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RB1 c.220_221del ;(p.A74Lfs*35)
Variant ID: 13-48881498-AGC-A
NM_000321.2(
RB1
):c.220_221del;(p.A74Lfs*35)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Case report: A colorectal cancer patient with microsatellite instability-high and MSH2 germline mutation failed to respond to anti-PD-1 immunotherapy.
Frontiers In Immunology
Zhang, Qun Q; Hu, Jing J; Zhang, Yaping Y; Li, Li L; Wang, Ting T; Qian, Xiaoping X
Publication Date: 2022
Variant appearance in text: N/A
PubMed Link:
35990637
Variant Present in the following documents:
View BVdb publication page
Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.
Bmc Cancer
Grotta, Simona S; D'Elia, Gemma G; Scavelli, Rossana R; Genovese, Silvia S; Surace, Cecilia C; Sirleto, Pietro P; Cozza, Raffaele R; Romanzo, Antonino A; De Ioris, Maria Antonietta MA; Valente, Paola P; Tomaiuolo, Anna Cristina AC; Lepri, Francesca Romana FR; Franchin, Tiziana T; Ciocca, Laura L; Russo, Serena S; Locatelli, Franco F; Angioni, Adriano A
Publication Date: 2015-11-04
Variant appearance in text: RB1: 220_221delGC
PubMed Link:
26530098
Variant Present in the following documents:
Main text
12885_2015_Article_1854.pdf
View BVdb publication page