Home > Gene Browser > CH25H

CH25H

Synonyms
C25H
External resources
Summary
This is an intronless gene that is involved in cholesterol and lipid metabolism. The encoded protein is a membrane protein and contains clusters of histidine residues essential for catalytic activity. Unlike most other sterol hydroxylases, this enzyme is a member of a small family of enzymes that utilize diiron cofactors to catalyze the hydroxylation of hydrophobic substrates.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
3
Likely pathogenic
0
VUS
134
Likely benign
0
Benign
0

Patient phenotypes

Proportions of phenotypes among 3 patients carring pathogenic or likely pathogenic variants on CH25H gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
66.7%
Abnormality of the musculoskeletal system
66.7%
Abnormality of limbs
33.3%
Abnormality of the cardiovascular system
33.3%
Abnormality of the digestive system
33.3%
Abnormality of the eye
33.3%
Abnormality of the genitourinary system
33.3%
Abnormality of the nervous system
33.3%
Abnormality of the voice
33.3%
Growth abnormality
33.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes