Variant (rsID / SNP)

rs140130028

rs140130028 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACYP1, NPC2. Location: chromosome 14, position 74,947,404. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ACYP1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 14:74947404
Cytoband: 14q24.3
HGVS: NM_006432.5(NPC2):c.441+1G>A
Allele change: Silent

Associated conditions / phenotypes

Niemann-Pick disease, type C2|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.