RB1 c.958C>G ;(p.R320G)

Variant ID: 13-48941648-C-G

NM_000321.2(RB1):c.958C>G;(p.R320G)

This variant was identified in 4 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: RB1: R320G; rs121913300
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Characterization of Aberrations in DNA Damage Repair Pathways in Gastrointestinal Stromal Tumors: The Clinicopathologic Relevance of γH2AX and 53BP1 in Correlation with Heterozygous Deletions of CHEK2, BRCA2, and RB1.

Cancers
Liu, Ting-Ting TT; Li, Chien-Feng CF; Tan, Kien-Thiam KT; Jan, Yi-Hua YH; Lee, Pei-Hang PH; Huang, Chih-Hao CH; Yu, Shih-Chen SC; Tsao, Cheng-Feng CF; Wang, Jui-Chu JC; Huang, Hsuan-Ying HY
Publication Date: 2022-03-31

Variant appearance in text: RB1: R320G
PubMed Link: 35406559
Variant Present in the following documents:
  • Main text
  • cancers-14-01787.pdf
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs121913300
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs121913300
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



Genetic and expression variations of cell cycle pathway genes in brain tumor patients.

Bioscience Reports
Naqvi, Anum Zehra AZ; Mahjabeen, Ishrat I; Ameen, Saima S; Ahmed, Malik Waqar MW; Khan, Asad Ullah AU; Akram, Zertashia Z; Kayani, Mahmood Akhtar MA
Publication Date: 2020-05-29

Variant appearance in text: rs121913300
PubMed Link: 32373934
Variant Present in the following documents:
  • Main text
  • bsr-40-bsr20190629.pdf
View BVdb publication page