Variant (rsID / SNP)
rs11544803
rs11544803 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UQCRQ, GDF9. Location: chromosome 5, position 132,202,707. Clinical significance in the table: Pathogenic.
Reference-table entries
UQCRQPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:132202707
- Cytoband
- 5q31.1
- HGVS
- NM_014402.5(UQCRQ):c.134C>T (p.Ser45Phe)
- Allele change
- Missense_S45F
Associated conditions / phenotypes
Mitochondrial complex III deficiency nuclear type 4
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.