SPTLC1 - Gene browser

SPTLC1

serine palmitoyltransferase long chain base subunit 1

HCNC Approved Symbol: SPTLC1 (HGNC:11277)
Genomic Coordinates: 9:92,031,147 - 92,115,413 (9q22.31)
Synonyms: LCB1, SPTI, HSAN1, hLCB1, HSN1
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

2Patients

In total, 2 patients were diagnosed with a variant in the SPTLC1 gene.

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

02
Patient count

Distal muscle weakness: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Allergic rhinitis: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Antiphospholipid antibody positivity: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Depression: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Eeg abnormalities: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)