TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Disease: HOYERAAL-HREIDARSSON SYNDROME ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039438
rs886039438
Entrez Id: 7015
Gene Symbol: TERT
TERT
CUI: C1846142
Disease:
HOYERAAL-HREIDARSSON SYNDROME 		0.010 GeneticVariation BEFREE We describe 2 sibling HHS cases caused by a homozygous mutation (p.T567M) within the TERT T motif. 23538340 2013