Variant (rsID / SNP)
rs147407423
rs147407423 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,868,793. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:89868793
- Cytoband
- 15q26.1
- HGVS
- NM_002693.3(POLG):c.1837C>T (p.His613Tyr)
- Allele change
- Missense_H613Y
Associated conditions / phenotypes
Progressive sclerosing poliodystrophy|Seizure|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 4b|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|Global developmental delay
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.