Variant (rsID / SNP)

rs267606898

rs267606898 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MT-ND5. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MT-ND5Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Cytoband: -
HGVS: m.13042G>A

Associated conditions / phenotypes

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke|MERRF syndrome|Leigh syndrome due to mitochondrial complex I deficiency|Leber optic atrophy|Mitochondrial disease

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.