Variant (rsID / SNP)
rs138929605
rs138929605 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POLG. Location: chromosome 15, position 89,873,337. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
POLGConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:89873337
- Cytoband
- 15q26.1
- HGVS
- NM_002693.3(POLG):c.830A>T (p.His277Leu)
- Allele change
- Missense_H277L
Associated conditions / phenotypes
Progressive sclerosing poliodystrophy|POLG-Related Spectrum Disorders|Mitochondrial DNA depletion syndrome|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 4b|Hereditary spastic paraplegia|Toe walking
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.