Variant (rsID / SNP)
rs147876332
rs147876332 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFA10. Location: chromosome 2, position 240,954,286. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
NDUFA10Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:240954286
- Cytoband
- 2q37.3
- HGVS
- NM_004544.4(NDUFA10):c.548-9A>G
- Allele change
- Silent
Associated conditions / phenotypes
Mitochondrial complex I deficiency, nuclear type 1|Leigh syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
