TERT c.2603A>G ;(p.D868G)

Variant ID: 5-1266630-T-C

NM_198253.2(TERT):c.2603A>G;(p.D868G)

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:

Dyskeratosis congenita caused by a novel TERT point mutation in siblings with pancytopenia and exudative retinopathy.

Pediatric Blood & Cancer
Sharma, Akshay A; Myers, Kasiani K; Ye, Zhan Z; D'Orazio, John J
Publication Date: 2014-12

Variant appearance in text: TERT: 2603A>G; D868G
PubMed Link: 25067791
Variant Present in the following documents:
  • Main text
View BVdb publication page