RB1 c.138-262G>C

Variant ID: 13-48881154-G-C

NM_000321.2(RB1):c.138-262G>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.

American Journal Of Human Genetics
Coppieters, Frauke F; Ascari, Giulia G; Dannhausen, Katharina K; Nikopoulos, Konstantinos K; Peelman, Frank F; Karlstetter, Marcus M; Xu, Mingchu M; Brachet, Cécile C; Meunier, Isabelle I; Tsilimbaris, Miltiadis K MK; Tsika, Chrysanthi C; Blazaki, Styliani V SV; Vergult, Sarah S; Farinelli, Pietro P; Van Laethem, Thalia T; Bauwens, Miriam M; De Bruyne, Marieke M; Chen, Rui R; Langmann, Thomas T; Sui, Ruifang R; Meire, Françoise F; Rivolta, Carlo C; Hamel, Christian P CP; Leroy, Bart P BP; De Baere, Elfride E
Publication Date: 2016-08-04

Variant appearance in text: rs1981434
PubMed Link: 27486781
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.pdf
View BVdb publication page



Candidate gene analysis using imputed genotypes: cell cycle single-nucleotide polymorphisms and ovarian cancer risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Goode, Ellen L EL; Fridley, Brooke L BL; Vierkant, Robert A RA; Cunningham, Julie M JM; Phelan, Catherine M CM; Anderson, Stephanie S; Rider, David N DN; White, Kristin L KL; Pankratz, V Shane VS; Song, Honglin H; Hogdall, Estrid E; Kjaer, Susanne K SK; Whittemore, Alice S AS; DiCioccio, Richard R; Ramus, Susan J SJ; Gayther, Simon A SA; Schildkraut, Joellen M JM; Pharaoh, Paul P D PP; Sellers, Thomas A TA
Publication Date: 2009-03

Variant appearance in text: rs1981434
PubMed Link: 19258477
Variant Present in the following documents:
  • Main text
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: rs1981434
PubMed Link: 16685266
Variant Present in the following documents:
  • Main text
  • 94-6603160a.pdf
View BVdb publication page