NHP2, NHP2 ribonucleoprotein, 55651

N. diseases: 91; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908089
rs121908089
Entrez Id: 55651;64777
Gene Symbol: NHP2;RMND5B
NHP2;RMND5B
CUI: C3151441
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 		0.800 GeneticVariation UNIPROT Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. 18523010 2008
dbSNP: rs121908090
rs121908090
Entrez Id: 55651;64777
Gene Symbol: NHP2;RMND5B
NHP2;RMND5B
CUI: C3151441
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 		0.800 GeneticVariation UNIPROT Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. 18523010 2008
dbSNP: rs121908089
rs121908089
Entrez Id: 55651;64777
Gene Symbol: NHP2;RMND5B
NHP2;RMND5B
CUI: C3151441
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121908090
rs121908090
Entrez Id: 55651;64777
Gene Symbol: NHP2;RMND5B
NHP2;RMND5B
CUI: C3151441
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121908091
rs121908091
Entrez Id: 55651;64777
Gene Symbol: NHP2;RMND5B
NHP2;RMND5B
CUI: C0265965
Disease:
Dyskeratosis Congenita 		0.710 GeneticVariation BEFREE Since the number of patients with DC is small and the effect of genetic pathogenic variant may affect the phenotype, we wanted to present the clinical features and course of illness in a patient with NHP2 gene mutation (compound heterozygote for the NHP2 mutations c.376G>A/c.460T>A; amino acid substitutions: p.Val126Met and p.X154Arg) that occurred as a compound heterozygous state. 30472699 2019
dbSNP: rs121908091
rs121908091
Entrez Id: 55651;64777
Gene Symbol: NHP2;RMND5B
NHP2;RMND5B
CUI: C0265965
Disease:
Dyskeratosis Congenita 		T 0.710 CausalMutation CLINVAR
dbSNP: rs121908089
rs121908089
Entrez Id: 55651;64777
Gene Symbol: NHP2;RMND5B
NHP2;RMND5B
CUI: C0265965
Disease:
Dyskeratosis Congenita 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121908090
rs121908090
Entrez Id: 55651;64777
Gene Symbol: NHP2;RMND5B
NHP2;RMND5B
CUI: C0265965
Disease:
Dyskeratosis Congenita 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121908091
rs121908091
Entrez Id: 55651;64777
Gene Symbol: NHP2;RMND5B
NHP2;RMND5B
CUI: C3151441
Disease:
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 		T 0.700 CausalMutation CLINVAR