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Variant (rsID / SNP)

rs371048800

DARS2

rs371048800 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DARS2. Location: chromosome 1, position 173,826,663. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DARS2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:173826663
Cytoband
1q25.1
HGVS
NM_018122.5(DARS2):c.1758C>T (p.Asp586=)
Allele change
Synonymous_D586D

Associated conditions / phenotypes

Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

Public references

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