Variant (rsID / SNP)

rs121434474

rs121434474 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MT-TH, MT-ND4. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MT-THPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: -
HGVS: m.12147G>A

Associated conditions / phenotypes

MERRF/MELAS overlap syndrome|Juvenile myopathy, encephalopathy, lactic acidosis AND stroke|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.