RB1 c.1699T>C ;(p.S567P)

Variant ID: 13-49027132-T-C

NM_000321.2(RB1):c.1699T>C;(p.S567P)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Retinoblastoma genetics screening and clinical management.

Bmc Medical Genomics
Gupta, Himika H; Malaichamy, Sivasankar S; Mallipatna, Ashwin A; Murugan, Sakthivel S; Jeyabalan, Nallathambi N; Suresh Babu, Vishnu V; Ghosh, Anuprita A; Ghosh, Arkasubhra A; Santhosh, Sam S; Seshagiri, Somasekar S; Ramprasad, Vedam L VL; Kumaramanickavel, Govindasamy G
Publication Date: 2021-07-22

Variant appearance in text: RB1: 1699T>C; S567P
PubMed Link: 34294096
Variant Present in the following documents:
  • Main text
  • 12920_2021_Article_1034.pdf
View BVdb publication page