SC5D - Gene browser | 3billion

SC5D

SC5D

sterol-C5-desaturase

HCNC Approved Symbol: SC5D (HGNC:10547)
Genomic Coordinates: 11:121,292,771 - 121,313,410 (11q23.3-q24.1)
Synonyms: SC5DL
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the SC5D gene.

Frequently observed phenotypes(Top 5 only)

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

01
Patient count

Hypotonia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Microcephaly: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30

SC5D - Gene browser | 3billion