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Variant (rsID / SNP)

rs587776984

DARS1

rs587776984 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DARS1. Location: chromosome 2, position 136,664,933. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DARS1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:136664933
Cytoband
2q21.3
HGVS
NM_001349.4(DARS1):c.1459C>T (p.Arg487Cys)
Allele change
Missense_R387C

Associated conditions / phenotypes

Hypomyelination with brain stem and spinal cord involvement and leg spasticity

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.