Variant (rsID / SNP)

rs200670286

rs200670286 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DARS2. Location: chromosome 1, position 173,826,730. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DARS2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:173826730
Cytoband: 1q25.1
HGVS: NM_018122.5(DARS2):c.1825C>T (p.Arg609Trp)
Allele change: Missense_R609W

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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