Variant (rsID / SNP)
rs199474657
rs199474657 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MT-TL1. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Cytoband
- -
- HGVS
- NC_012920.1:m.3243A>G
Associated conditions / phenotypes
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke|Muscle stiffness, painful|Cyclical vomiting syndrome|Age related macular degeneration 2|Cytochrome-c oxidase deficiency disease|3-methylglutaconic aciduria type 1|MERRF/MELAS overlap syndrome|Diabetes-deafness syndrome maternally transmitted|Leigh syndrome|Mitochondrial disease|Glucose intolerance|Stroke|Sensorineural hearing loss disorder|Short stature|Juvenile myopathy, encephalopathy, lactic acidosis AND stroke|MERRF syndrome|Cerebral palsy|Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.