RB1 c.754_755delinsGG ;(p.T252G)

Variant ID: 13-48936986-AC-GG

NM_000321.2(RB1):c.754_755delinsGG;(p.T252G)

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:

Disease-associated mutations that alter the RNA structural ensemble.

Plos Genetics
Halvorsen, Matthew M; Martin, Joshua S JS; Broadaway, Sam S; Laederach, Alain A
Publication Date: 2010-08-19

Variant appearance in text: RB1: T252G
PubMed Link: 20808897
Variant Present in the following documents:
  • Main text
  • pgen.1001074.pdf
View BVdb publication page