Variant (rsID / SNP)
rs374526072
rs374526072 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPC1. Location: chromosome 18, position 21,115,645. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
NPC1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:21115645
- Cytoband
- 18q11.2
- HGVS
- NM_000271.5(NPC1):c.3265G>A (p.Glu1089Lys)
- Allele change
- Missense_E1089K
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.