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NPC1, IVS16, G-A, -82 AND Niemann-Pick disease type C1

Significance: Pathogenic
ClinVar: RCV000003109

Variant: NPC1, IVS16, G-A, -82

Type: Variant
Allele: NPC1, IVS16, G-A, -82 18014
Gene:
Type: single nucleotide variant
References: OMIM: 607623.0019

Condition

Disease: Niemann-Pick disease type C1

Citation

    For discussion of the splice site mutation in the NPC1 gene (IVS16-82G-A) that was found in compound heterozygous state in patients with type C Niemann-Pick disease (257220) by Ribeiro et al. (2001), see 607623.0018.
PMID:11479732