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TERT c.2149_2150delinsCG ;(p.Y717R)
Variant ID: 5-1278892-TA-CG
NM_198253.2(
TERT
):c.2149_2150delinsCG;(p.Y717R)
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:
Structural, functional, and stability change predictions in human telomerase upon specific point mutations.
Scientific Reports
Kalathiya, U U; Padariya, M M; Baginski, M M
Publication Date: 2019-06-18
Variant appearance in text: TERT: Y717R
PubMed Link:
31213647
Variant Present in the following documents:
Main text
41598_2019_Article_45206.pdf
41598_2019_45206_MOESM1_ESM.pdf
View BVdb publication page