TRNT1, tRNA nucleotidyl transferase 1, 51095

N. diseases: 40; N. variants: 15
Disease: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs606231290
rs606231290
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1
CUI: C4015172
Disease:
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY 		0.810 GeneticVariation BEFREE Our data suggest that the SIFD phenotype is linked to poor stability of the T154I and L166S variant proteins, and to a combination of reduced stability and altered catalytic efficiency in the M158 V, R190I and I223T variants. 29454993 2018
dbSNP: rs606231290
rs606231290
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1
CUI: C4015172
Disease:
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY 		0.810 GeneticVariation UNIPROT
dbSNP: rs606231290
rs606231290
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1
CUI: C4015172
Disease:
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY 		T 0.810 CausalMutation CLINVAR