Variant (rsID / SNP)

rs121918208

rs121918208 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DARS2. Location: chromosome 1, position 173,800,731. Clinical significance in the table: Pathogenic.

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Reference-table entries

DARS2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:173800731
Cytoband: 1q25.1
HGVS: NM_018122.5(DARS2):c.455G>T (p.Cys152Phe)
Allele change: Missense_C152F

Associated conditions / phenotypes

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

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.