RB1 c.390del ;(p.K130Nfs*6)

Variant ID: 13-48919222-TA-T

NM_000321.2(RB1):c.390del;(p.K130Nfs*6)

This variant was identified in 3 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: 390delA; K130Nfs*6
PubMed Link: 35792876
Variant Present in the following documents:
  • ccr-22-1115_supplementary_tables_1_suppts1.xlsx, sheet 6
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: RB1: K130Nfs*6
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page



Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma.

Molecular Vision
Mohd Khalid, Mohd Khairul Nizam MK; Yakob, Yusnita Y; Md Yasin, Rohani R; Wee Teik, Keng K; Siew, Ch'ng Gaik CG; Rahmat, Jamalia J; Ramasamy, Sunder S; Alagaratnam, Joseph J
Publication Date: 2015

Variant appearance in text: RB1: 390del; Lys130Asnfs*6
PubMed Link: 26539030
Variant Present in the following documents:
  • Main text
  • mv-v21-1185.pdf
View BVdb publication page