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COL21A1

Synonyms
COLA1L, FP633
External resources
Summary
This gene encodes the alpha chain of type XXI collagen, a member of the FACIT (fibril-associated collagens with interrupted helices) collagen family. Type XXI collagen is localized to tissues containing type I collagen and maintains the integrity of the extracellular matrix. Alternative splicing results in multiple transcript variants.

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
66
Likely pathogenic
41
VUS
3,688
Likely benign
229
Benign
0

Patient phenotypes

Proportions of phenotypes among 107 patients carring pathogenic or likely pathogenic variants on COL21A1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.3%
Abnormality of the musculoskeletal system
32.7%
Abnormality of head or neck
22.4%
Abnormality of the eye
18.7%
Abnormality of the cardiovascular system
16.8%
Abnormality of the ear
15%
Growth abnormality
15%
Abnormality of limbs
13.1%
Abnormality of the genitourinary system
10.3%
Abnormality of the immune system
8.4%
Abnormality of the integument
8.4%
Abnormality of prenatal development or birth
4.7%
Abnormality of the digestive system
4.7%
Abnormality of blood and blood-forming tissues
3.7%
Abnormality of the respiratory system
3.7%
Abnormality of the breast
1.9%
Abnormality of the endocrine system
1.9%
Neoplasm
1.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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