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COL24A1

Synonyms
-
External resources
Summary
This gene is a member of the collagen gene family and is thought to regulate type I collagen fibrillogenesis during fetal development.

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
44
Likely pathogenic
1
VUS
21,188
Likely benign
9,210
Benign
0

Patient Phenotypes

Proportions of phenotypes among 42 patients carrying pathogenic or likely pathogenic variants on COL24A1 gene are displayed below. The following symptoms were found in patients with a variant in COL24A1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.5%
Abnormality of the eye
31%
Abnormality of the cardiovascular system
16.7%
Abnormality of the musculoskeletal system
14.3%
Abnormality of the integument
11.9%
Growth abnormality
11.9%
Abnormality of head or neck
7.1%
Abnormality of metabolism homeostasis
7.1%
Abnormality of blood and blood forming tissues
4.8%
Abnormality of the genitourinary system
4.8%
Constitutional symptom
4.8%
Abnormality of the ear
2.4%
Abnormality of the endocrine system
2.4%
Neoplasm
2.4%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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