Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs547708828

DARS2

rs547708828 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DARS2. Location: chromosome 1, position 173,802,588. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

DARS2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:173802588
Cytoband
1q25.1
HGVS
NM_018122.5(DARS2):c.567G>A (p.Leu189=)
Allele change
Synonymous_L189L

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.