| Geno
|
Mag
|
Summary
|
| (A;A)
|
0
|
common in clinvar
|
| (G;G)
|
7
|
MELAS Syndrome
|
The mitochondrial tRNA for the amino acid leucine is encoded by mitochrondrial nucleotides 3230-3304, and this variant from within that region, rs199474657(G), also known as 3243A-G MTTL1, is the most common heteroplasmic mtDNA mutation associated with disease.
The disease is known as MELAS syndrome, and it is associated with numerous symptoms including diabetes, muscle stiffness/soreness and deafness.
| ClinVar
|
| Risk
|
Rs199474657(G;G) |
| Alt
|
Rs199474657(G;G) |
| Reference
|
Rs199474657(A;A) |
| Significance |
Pathogenic |
| Disease |
Juvenile myopathy Muscle stiffness Age-related macular degeneration 2 Cyclical vomiting syndrome Cytochrome-c oxidase deficiency 3-Methylglutaconic aciduria MERRF/MELAS overlap syndrome Diabetes-deafness syndrome maternally transmitted Leigh syndrome Myoclonus with epilepsy with ragged red fibers not provided |
| Variation | info |
|---|
| Gene |
|
| CLNDBN |
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Muscle stiffness, painful Age-related macular degeneration 2 Cyclical vomiting syndrome Cytochrome-c oxidase deficiency 3-Methylglutaconic aciduria MERRF/MELAS overlap syndrome Diabetes-deafness syndrome maternally transmitted Leigh syndrome Myoclonus with epilepsy with ragged red fibers not provided |
| Reversed |
0 |
| HGVS |
NC_012920.1:m.3243A>G |
| CLNSRC |
OMIM Allelic Variant |
| CLNACC |
RCV000010206.5, RCV000010208.5, RCV000010209.7, RCV000010210.5, RCV000010211.5, RCV000022901.5, RCV000022902.5, RCV000032997.5, RCV000143997.2, RCV000192054.1, RCV000224855.1, |
