DARS1 Chromosome 2

Aspartyl-tRNA synthetase 1

19 variants 19 Health Risk

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What This Gene Does

This gene encodes a member of a multienzyme complex that functions in mediating the attachment of amino acids to their cognate tRNAs. The encoded protein ligates L-aspartate to tRNA(Asp). Mutations in this gene have been found in patients showing hypomyelination with brainstem and spinal cord involvement and leg spasticity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

Gene Info

Gene Group

Aminoacyl tRNA synthetases, Class II

Locus Type

gene with protein product

Location

2q21.3

Ensembl

ENSG00000115866

Associated Conditions (7)

Hypomyelination with brain stem and spinal cord involvement and leg spasticity

Inborn genetic diseases

DARS1-related disorder

Ovarian serous cystadenocarcinoma

Cervical cancer

Sarcoma

Abnormal brain morphology

Key Variants

RS140573664

Conflicting classifications of pathogenicity

Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Inborn genetic diseases, Hypomyelination with brain stem and spinal cord involvement and leg spasticity

Health Risk

RS141522501

Conflicting classifications of pathogenicity

Health Risk

RS148806569

Conflicting classifications of pathogenicity

Health Risk

RS149170955

Conflicting classifications of pathogenicity

Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Inborn genetic diseases, DARS1-related disorder

Health Risk

RS199776135

Conflicting classifications of pathogenicity

Health Risk

RS2228660

Conflicting classifications of pathogenicity

Health Risk

RS377510027

Conflicting classifications of pathogenicity

Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Hypomyelination with brain stem and spinal cord involvement and leg spasticity

Health Risk

RS551090724

Conflicting classifications of pathogenicity

Health Risk

RS587776984

Conflicting classifications of pathogenicity

Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Hypomyelination with brain stem and spinal cord involvement and leg spasticity

Health Risk

RS777497235

Conflicting classifications of pathogenicity

Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Hypomyelination with brain stem and spinal cord involvement and leg spasticity

Health Risk

RS1060499772

Likely pathogenic

Abnormal brain morphology, Abnormal brain morphology

Health Risk

RS147077598

Likely pathogenic

Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Hypomyelination with brain stem and spinal cord involvement and leg spasticity

Health Risk

All Variants (19)

RSID	Category	Clinical Significance	Conditions
RS140573664	Health Risk	Conflicting classifications of pathogenicity	Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Inborn genetic diseases, Hypomyelination with brain stem and spinal cord involvement and leg spasticity
RS141522501	Health Risk	Conflicting classifications of pathogenicity	DARS1-related disorder, DARS1-related disorder
RS148806569	Health Risk	Conflicting classifications of pathogenicity	—
RS149170955	Health Risk	Conflicting classifications of pathogenicity	Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Inborn genetic diseases, DARS1-related disorder
RS199776135	Health Risk	Conflicting classifications of pathogenicity	DARS1-related disorder, Ovarian serous cystadenocarcinoma, Cervical cancer
RS2228660	Health Risk	Conflicting classifications of pathogenicity	DARS1-related disorder, DARS1-related disorder
RS377510027	Health Risk	Conflicting classifications of pathogenicity	Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Hypomyelination with brain stem and spinal cord involvement and leg spasticity
RS551090724	Health Risk	Conflicting classifications of pathogenicity	—
RS587776984	Health Risk	Conflicting classifications of pathogenicity	Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Hypomyelination with brain stem and spinal cord involvement and leg spasticity
RS777497235	Health Risk	Conflicting classifications of pathogenicity	Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Hypomyelination with brain stem and spinal cord involvement and leg spasticity
RS1060499772	Health Risk	Likely pathogenic	Abnormal brain morphology, Abnormal brain morphology
RS147077598	Health Risk	Likely pathogenic	Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Hypomyelination with brain stem and spinal cord involvement and leg spasticity
RS761230959	Health Risk	Likely pathogenic	—
RS967111310	Health Risk	Likely pathogenic	Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Hypomyelination with brain stem and spinal cord involvement and leg spasticity
RS369152939	Health Risk	Pathogenic	Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Hypomyelination with brain stem and spinal cord involvement and leg spasticity
RS370064817	Health Risk	Pathogenic	Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Hypomyelination with brain stem and spinal cord involvement and leg spasticity
RS527236040	Health Risk	Pathogenic	Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Hypomyelination with brain stem and spinal cord involvement and leg spasticity
RS587776985	Health Risk	Pathogenic	Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Hypomyelination with brain stem and spinal cord involvement and leg spasticity
RS886037635	Health Risk	Pathogenic	Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Hypomyelination with brain stem and spinal cord involvement and leg spasticity