Variant (rsID / SNP)
rs104894295
rs104894295 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SC5D. Location: chromosome 11, position 121,174,170. Clinical significance in the table: Pathogenic.
Reference-table entries
SC5DPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:121174170
- Cytoband
- 11q24.1
- HGVS
- NM_006918.5(SC5D):c.86G>A (p.Arg29Gln)
- Allele change
- Missense_R29Q
Associated conditions / phenotypes
Lathosterolosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.