TRNT1, tRNA nucleotidyl transferase 1, 51095

N. diseases: 40; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs370011798
rs370011798
Entrez Id: 51095;51185
Gene Symbol: TRNT1;CRBN
TRNT1;CRBN
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: rs606231287
rs606231287
Entrez Id: 51095;51185
Gene Symbol: TRNT1;CRBN
TRNT1;CRBN
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: rs606231289
rs606231289
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 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: rs370011798
rs370011798
Entrez Id: 51095;51185
Gene Symbol: TRNT1;CRBN
TRNT1;CRBN
CUI: C4015172
Disease:
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY 		0.810 GeneticVariation UNIPROT Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). 25193871 2014
dbSNP: rs370011798
rs370011798
Entrez Id: 51095;51185
Gene Symbol: TRNT1;CRBN
TRNT1;CRBN
CUI: C4015172
Disease:
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY 		C 0.810 CausalMutation CLINVAR
dbSNP: rs606231287
rs606231287
Entrez Id: 51095;51185
Gene Symbol: TRNT1;CRBN
TRNT1;CRBN
CUI: C4015172
Disease:
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY 		0.810 GeneticVariation UNIPROT
dbSNP: rs606231287
rs606231287
Entrez Id: 51095;51185
Gene Symbol: TRNT1;CRBN
TRNT1;CRBN
CUI: C4015172
Disease:
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY 		T 0.810 CausalMutation CLINVAR
dbSNP: rs606231289
rs606231289
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: rs606231289
rs606231289
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1
CUI: C4015172
Disease:
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY 		C 0.810 CausalMutation CLINVAR
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
dbSNP: rs797045036
rs797045036
Entrez Id: 51095;51185
Gene Symbol: TRNT1;CRBN
TRNT1;CRBN
CUI: C1843942
Disease:
Mental Retardation, Autosomal Recessive 2 		G 0.800 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs797045036
rs797045036
Entrez Id: 51095;51185
Gene Symbol: TRNT1;CRBN
TRNT1;CRBN
CUI: C1843942
Disease:
Mental Retardation, Autosomal Recessive 2 		0.800 GeneticVariation UNIPROT
dbSNP: rs797045036
rs797045036
Entrez Id: 51095;51185
Gene Symbol: TRNT1;CRBN
TRNT1;CRBN
CUI: C1843942
Disease:
Mental Retardation, Autosomal Recessive 2 		G 0.800 CausalMutation CLINVAR
dbSNP: rs199931785
rs199931785
Entrez Id: 51095;51185
Gene Symbol: TRNT1;CRBN
TRNT1;CRBN
CUI: C4015172
Disease:
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY 		0.700 GeneticVariation UNIPROT Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). 25193871 2014
dbSNP: rs121918368
rs121918368
Entrez Id: 51095;51185
Gene Symbol: TRNT1;CRBN
TRNT1;CRBN
CUI: C1843942
Disease:
Mental Retardation, Autosomal Recessive 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs606231291
rs606231291
Entrez Id: 51095;51185
Gene Symbol: TRNT1;CRBN
TRNT1;CRBN
CUI: C4015172
Disease:
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY 		GATGT 0.700 CausalMutation CLINVAR
dbSNP: rs771781629
rs771781629
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1
CUI: C4015172
Disease:
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY 		0.700 GeneticVariation UNIPROT
dbSNP: rs876661297
rs876661297
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1
CUI: C4310776
Disease:
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS 		C 0.700 CausalMutation CLINVAR
dbSNP: rs876661298
rs876661298
Entrez Id: 51095;51185
Gene Symbol: TRNT1;CRBN
TRNT1;CRBN
CUI: C4310776
Disease:
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS 		G 0.700 CausalMutation CLINVAR
dbSNP: rs876661298
rs876661298
Entrez Id: 51095;51185
Gene Symbol: TRNT1;CRBN
TRNT1;CRBN
CUI: C4015172
Disease:
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY 		GA 0.700 CausalMutation CLINVAR
dbSNP: rs876661298
rs876661298
Entrez Id: 51095;51185
Gene Symbol: TRNT1;CRBN
TRNT1;CRBN
CUI: C4310776
Disease:
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS 		GA 0.700 CausalMutation CLINVAR
dbSNP: rs876661299
rs876661299
Entrez Id: 51095;51185
Gene Symbol: TRNT1;CRBN
TRNT1;CRBN
CUI: C4310776
Disease:
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS 		C 0.700 CausalMutation CLINVAR
dbSNP: rs121918368
rs121918368
Entrez Id: 51095;51185
Gene Symbol: TRNT1;CRBN
TRNT1;CRBN
CUI: C3714756
Disease:
Intellectual Disability 		0.030 GeneticVariation BEFREE The nonsense mutation, R419X, causes deletion of 24 amino acids at the C-terminus of CRBN, leading to mild ID. 26188093 2015