TINF2, TERF1 interacting nuclear factor 2, 26277

N. diseases: 158; N. variants: 20
Disease: REVESZ SYNDROME (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918544
rs121918544
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C1327916
Disease:
REVESZ SYNDROME (disorder) 		0.810 GeneticVariation BEFREE Evidence favoring linkage was found at 2p24 and 14q11.2, and this led to the identification of TINF2 (14q11.2) mutations, K280E, in the proband and her five affected relatives and TINF2 R282H in three additional unrelated DC probands, including one with Revesz syndrome; a fifth DC proband had a R282S mutation. 18252230 2008
dbSNP: rs121918544
rs121918544
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C1327916
Disease:
REVESZ SYNDROME (disorder) 		0.810 GeneticVariation UNIPROT Evidence favoring linkage was found at 2p24 and 14q11.2, and this led to the identification of TINF2 (14q11.2) mutations, K280E, in the proband and her five affected relatives and TINF2 R282H in three additional unrelated DC probands, including one with Revesz syndrome; a fifth DC proband had a R282S mutation. 18252230 2008
dbSNP: rs121918544
rs121918544
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
CUI: C1327916
Disease:
REVESZ SYNDROME (disorder) 		T 0.810 CausalMutation CLINVAR