Variant (rsID / SNP)
rs148341631
rs148341631 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NDUFAF5. Location: chromosome 20, position 13,775,557. Clinical significance in the table: Benign.
Reference-table entries
NDUFAF5Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:13775557
- Cytoband
- 20p12.1
- HGVS
- NM_024120.5(NDUFAF5):c.449A>G (p.Asn150Ser)
- Allele change
- Silent
Associated conditions / phenotypes
Mitochondrial complex I deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.