Variant (rsID / SNP)
rs145747389
rs145747389 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFS6. Location: chromosome 5, position 1,801,520. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
NDUFS6Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:1801520
- Cytoband
- 5p15.33
- HGVS
- NM_004553.4(NDUFS6):c.-12C>T
- Allele change
- Silent
Associated conditions / phenotypes
Mitochondrial complex I deficiency, nuclear type 1|Mitochondrial complex 1 deficiency, nuclear type 9
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.