Niemann-Pick Disease, Type C1(Niemann-Pick disease, variant type C1)
An Autosomal recessive mode(s) within the Metabolic disorders/Lysosomal storage disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Metabolic disorders/Lysosomal storage disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | NPC1/4864 | NPC intracellular cholesterol transporter 1 | 18q11.2 | Chr18, NC_000018.10 (23506184..23586506, complement) |
80323 nt | 28 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | NPC2/10577 | NPC intracellular cholesterol transporter 2 | 14q24.3 | Chr14, NC_000014.9 (74479935..74493512, complement) |
13578 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities