Variant (rsID / SNP)
rs28942107
rs28942107 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPC1. Location: chromosome 18, position 21,116,778. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
NPC1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:21116778
- Cytoband
- 18q11.2
- HGVS
- NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val)
- Allele change
- Missense_A1035V
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.