GC c.867_868insC ;(p.S290Lfs*6)

Variant ID: 4-72622595-A-AG

NM_000583.3(GC):c.867_868insC;(p.S290Lfs*6)

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:

High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.

Human Genetics
Norris, Kevin K; Walne, Amanda J AJ; Ponsford, Mark J MJ; Cleal, Kez K; Grimstead, Julia W JW; Ellison, Alicia A; Alnajar, Jenna J; Dokal, Inderjeet I; Vulliamy, Tom T; Baird, Duncan M DM
Publication Date: 2021-06

Variant appearance in text: GC: 867_868insC
PubMed Link: 33709208
Variant Present in the following documents:
  • 439_2021_2257_MOESM1_ESM.pdf
View BVdb publication page