Variant (rsID / SNP)

rs756815030

rs756815030 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPC1. Location: chromosome 18, position 21,118,574. 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: Deletion
Chromosome / position: 18:21118574
Cytoband: 18q11.2
HGVS: NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs)

Associated conditions / phenotypes

Niemann-Pick disease, type C1|Niemann-Pick disease, type C

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.