RB1 c.1332+3A>C

Variant ID: 13-48951173-A-C

NM_000321.2(RB1):c.1332+3A>C

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Rb Tumor Suppressor in Small Cell Lung Cancer: Combined Genomic and IHC Analysis with a Description of a Distinct Rb-Proficient Subset.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Febres-Aldana, Christopher A CA; Chang, Jason C JC; Ptashkin, Ryan R; Wang, Yuhan Y; Gedvilaite, Erika E; Baine, Marina K MK; Travis, William D WD; Ventura, Katia K; Bodd, Francis F; Yu, Helena A HA; Quintanal-Villalonga, Alvaro A; Lai, W Victoria WV; Egger, Jacklynn V JV; Offin, Michael M; Ladanyi, Marc M; Rudin, Charles M CM; Rekhtman, Natasha N
Publication Date: 2022-11-01

Variant appearance in text: RB1: 1332+3A>C
PubMed Link: 35792876
Variant Present in the following documents:
  • ccr-22-1115_supplementary_tables_1_suppts1.xlsx, sheet 6
  • ccr-22-1115_supplementary_tables_1_suppts1.xlsx, sheet 7
View BVdb publication page



Spectrum of germline mutations in RB1 in Chinese patients with retinoblastoma: Application of targeted next-generation sequencing.

Molecular Vision
Zou, Yihua Y; Li, Jiakai J; Hua, Peiyan P; Liang, Tingyi T; Ji, Xunda X; Zhao, Peiquan P
Publication Date: 2021

Variant appearance in text: RB1: 1332+3A>C
PubMed Link: 33456302
Variant Present in the following documents:
  • Main text
  • mv-v27-1.pdf
View BVdb publication page