RB1 c.430del ;(p.V144Lfs*9)

Variant ID: 13-48919265-AG-A

NM_000321.2(RB1):c.430del;(p.V144Lfs*9)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Human papillomavirus-related neoplasia of the ocular adnexa.

Acta Ophthalmologica
Ramberg, Ingvild Margrethe Sellaeg IMS
Publication Date: 2022-10

Variant appearance in text: RB1: V144Lfs*9
PubMed Link: 36203222
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India.

Indian Journal Of Pediatrics
Lashkari, Harsha Prasada HP; Madkaikar, Manisha M; Dalvi, Aparna A; Gupta, Maya M; Bustamante, Jacinta J; Sharma, Madhubala M; Rawat, Amit A; Bhatia, Prateek P; Bhat, Kamalakshi G KG; Rao, Sadashiva S; Kamath, Nutan N; Moideen, Faheem F; Latour, Sylvain S; Winter, Sarah S; Bhavani, Gandham SriLakshmi GS; Girisha, Katta M KM
Publication Date: 2022-03

Variant appearance in text: RB1: 430delG; val144fs
PubMed Link: 34826056
Variant Present in the following documents:
  • Main text
  • 12098_2021_Article_3936.pdf
View BVdb publication page



Genomic Alterations in Human Papillomavirus-Positive and -Negative Conjunctival Squamous Cell Carcinomas.

Investigative Ophthalmology & Visual Science
Ramberg, Ingvild I; Vieira, Filipe Garrett FG; Toft, Peter Bjerre PB; von Buchwald, Christian C; Funding, Mikkel M; Nielsen, Finn Cilius FC; Heegaard, Steffen S
Publication Date: 2021-11-01

Variant appearance in text: RB1: V144Lfs*9
PubMed Link: 34779821
Variant Present in the following documents:
  • Main text
  • iovs-62-14-11.pdf
View BVdb publication page