Variant (rsID / SNP)
rs113994095
rs113994095 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,870,432. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:89870432
- Cytoband
- 15q26.1
- HGVS
- NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
- Allele change
- Missense_A467T
Associated conditions / phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Spinocerebellar ataxia with epilepsy|Progressive sclerosing poliodystrophy|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|POLG-Related Spectrum Disorders|Mitochondrial disease|6 conditions|Seizure|POLG-related condition|Mitochondrial DNA depletion syndrome 4b|Progressive sclerosing poliodystrophy|POLG-related disorders|Mitochondrial DNA depletion syndrome 4b|Toe walking|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Mitochondrial DNA depletion syndrome 4b|Progressive sclerosing poliodystrophy|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Mitochondrial DNA depletion syndrome 4b|Progressive sclerosing poliodystrophy|Hereditary spastic paraplegia|Neurodevelopmental delay
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.