Variant (rsID / SNP)

rs55724504

rs55724504 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPC1. Location: chromosome 18, position 21,114,440. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NPC1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 18:21114440
Cytoband: 18q11.2
HGVS: NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)
Allele change: Synonymous_A1187A

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.