Variant (rsID / SNP)
rs1805082
rs1805082 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPC1. Location: chromosome 18, position 21,120,444. Clinical significance in the table: Benign.
Reference-table entries
NPC1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:21120444
- Cytoband
- 18q11.2
- HGVS
- NM_000271.5(NPC1):c.2572A>G (p.Ile858Val)
- Allele change
- Missense_I858V
Associated conditions / phenotypes
Niemann-Pick disease, type C1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.