NPC1 - Gene browser

NPC1

NPC intracellular cholesterol transporter 1

HCNC Approved Symbol: NPC1 (HGNC:7897)
Genomic Coordinates: 18:23,506,184 - 23,586,506 (18q11.2)
Synonyms: SLC65A1
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

19Patients

In total, 19 patients were diagnosed with a variant in the NPC1 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

019
Patient count

Hypotonia: 6 (31.6%)
Patient Count: 6 (31.6%)
% of total patients presenting each phenotype is shown in parentheses.
6 (31.6%)
Ataxia: 6 (31.6%)
Patient Count: 6 (31.6%)
% of total patients presenting each phenotype is shown in parentheses.
6 (31.6%)
Splenomegaly: 4 (21.1%)
Patient Count: 4 (21.1%)
% of total patients presenting each phenotype is shown in parentheses.
4 (21.1%)
Global developmental delay: 4 (21.1%)
Patient Count: 4 (21.1%)
% of total patients presenting each phenotype is shown in parentheses.
4 (21.1%)
Anemia: 3 (15.8%)
Patient Count: 3 (15.8%)
% of total patients presenting each phenotype is shown in parentheses.
3 (15.8%)