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RB1 c.142_170del ;(p.E48Yfs*52)
Variant ID: 13-48881417-CTTGAGTTTGAAGAAACAGAAGAACCTGAT-C
NM_000321.2(
RB1
):c.142_170del;(p.E48Yfs*52)
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:
Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations.
Molecular Vision
He, Ming-yan MY; An, Yu Y; Gao, Yi-jin YJ; Qian, Xiao-wen XW; Li, Gang G; Qian, Jiang J
Publication Date: 2014
Variant appearance in text: RB1: 142_170del; E48YfsX52
PubMed Link:
24791139
Variant Present in the following documents:
Main text
mv-v20-545.pdf
View BVdb publication page