Variant (rsID / SNP)
rs115051769
rs115051769 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DARS2. Location: chromosome 1, position 173,800,667. Clinical significance in the table: Benign.
Reference-table entries
DARS2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:173800667
- Cytoband
- 1q25.1
- HGVS
- NM_018122.5(DARS2):c.397-6T>G
- Allele change
- Silent
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.