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COL23A1

Synonyms
-
External resources
Summary
COL23A1 is a member of the transmembrane collagens, a subfamily of the nonfibrillar collagens that contain a single pass hydrophobic transmembrane domain (Banyard et al., 2003

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
103
Likely pathogenic
8
VUS
9,109
Likely benign
1,481
Benign
0

Patient phenotypes

Proportions of phenotypes among 109 patients carring pathogenic or likely pathogenic variants on COL23A1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
33.9%
Abnormality of the cardiovascular system
20.2%
Abnormality of the musculoskeletal system
18.3%
Abnormality of the ear
15.6%
Abnormality of the eye
12.8%
Abnormality of head or neck
11%
Abnormality of the immune system
9.2%
Growth abnormality
9.2%
Abnormality of blood and blood-forming tissues
7.3%
Abnormality of the digestive system
6.4%
Abnormality of the genitourinary system
4.6%
Abnormality of limbs
3.7%
Abnormality of the endocrine system
3.7%
Abnormal cellular phenotype
2.8%
Abnormality of the respiratory system
1.8%
Constitutional symptom
1.8%
Abnormality of prenatal development or birth
0.9%
Abnormality of the integument
0.9%
Abnormality of the voice
0.9%
Neoplasm
0.9%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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