NDRG1 Chromosome 8

N-myc downstream regulated 1
61 variants 61 Health Risk

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What This Gene Does
This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein involved in stress responses, hormone responses, cell growth, and differentiation. The encoded protein is necessary for p53-mediated caspase activation and apoptosis. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4D, and expression of this gene may be a prognostic indicator for several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
Gene Info
Gene Group
NDRG family
Locus Type
gene with protein product
Location
8q24.22
Ensembl
ENSG00000104419
Associated Conditions (8)
Charcot-Marie-Tooth disease type 4
Inborn genetic diseases
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease
NDRG1-related disorder
Lung cancer
Uterine corpus endometrial carcinoma
Ovarian serous cystadenocarcinoma
Key Variants
RS1048918488
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
Health Risk
RS11575976
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4D
Health Risk
RS1310471207
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D
Health Risk
RS137993172
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease
Health Risk
RS140634799
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D, Inborn genetic diseases
Health Risk
RS141078746
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D, Inborn genetic diseases
Health Risk
RS143549909
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, NDRG1-related disorder
Health Risk
RS145871479
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4
Health Risk
RS1467447359
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D
Health Risk
RS150796527
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease
Health Risk
RS191237702
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D, Inborn genetic diseases
Health Risk
RS199597649
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease
Health Risk
All Variants (61)
RSID Category Clinical Significance Conditions
RS1048918488 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
RS11575976 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4D
RS1310471207 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D
RS137993172 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease
RS140634799 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D, Inborn genetic diseases
RS141078746 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D, Inborn genetic diseases
RS143549909 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, NDRG1-related disorder
RS145871479 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4
RS1467447359 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D
RS150796527 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease
RS191237702 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D, Inborn genetic diseases
RS199597649 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease
RS200328537 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D
RS200367524 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4D
RS200465804 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4D, NDRG1-related disorder, Charcot-Marie-Tooth disease type 4D
RS201959970 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease
RS202118022 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4D
RS2130692394 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4
RS2233328 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4D
RS368061370 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D, Inborn genetic diseases
RS377225752 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D, Inborn genetic diseases
RS61755062 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease
RS745520295 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D
RS751274009 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4D
RS753312340 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4
RS774605205 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D, Inborn genetic diseases
RS775475505 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D
RS779638529 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D
RS886062716 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4D
RS112360093 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1320417829 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1586407193 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1586446057 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1855844502 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1856488064 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2130785568 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2538018196 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2538025012 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2538050013 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2538056425 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4D, Ovarian serous cystadenocarcinoma, Charcot-Marie-Tooth disease type 4D
RS2538069534 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4D
RS758718584 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1170222257 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS119483085 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D
RS1405633183 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1586451553 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1855957969 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2130719557 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4D, Charcot-Marie-Tooth disease type 4D
RS2130719686 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2130727371 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
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