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RB1 c.1961T>A ;(p.V654E)
Variant ID: 13-49033824-T-A
NM_000321.2(
RB1
):c.1961T>A;(p.V654E)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: RB1: V654E
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page
Single nucleotide polymorphism detection by combinatorial fluorescence energy transfer tags and biotinylated dideoxynucleotides.
Nucleic Acids Research
Tong, Anthony K AK; Ju, Jingyue J
Publication Date: 2002-03-01
Variant appearance in text: RB1: V654E
PubMed Link:
11861924
Variant Present in the following documents:
Main text
View BVdb publication page