Variant (rsID / SNP)

rs1805084

rs1805084 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPC1. Location: chromosome 18, position 21,112,206. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NPC1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 18:21112206
Cytoband: 18q11.2
HGVS: NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln)
Allele change: Missense_R1266Q

Associated conditions / phenotypes

Niemann-Pick disease, type C1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.