Variant (rsID / SNP)

rs141298312

rs141298312 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DARS2. Location: chromosome 1, position 173,808,677. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DARS2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:173808677
Cytoband: 1q25.1
HGVS: NM_018122.5(DARS2):c.1013G>A (p.Gly338Glu)
Allele change: Missense_G338E

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.