Home > Gene Browser > COL16A1

COL16A1

Synonyms
447AA, FP1572
External resources
Summary
This gene encodes the alpha chain of type XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. High levels of type XVI collagen have been found in fibroblasts and keratinocytes, and in smooth muscle and amnion.

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
18
Likely pathogenic
0
VUS
19,699
Likely benign
3,010
Benign
0

Patient phenotypes

Proportions of phenotypes among 18 patients carring pathogenic or likely pathogenic variants on COL16A1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
44.4%
Abnormality of the cardiovascular system
38.9%
Abnormality of the nervous system
38.9%
Abnormality of the musculoskeletal system
33.3%
Abnormality of the digestive system
16.7%
Abnormality of head or neck
11.1%
Abnormality of prenatal development or birth
11.1%
Abnormality of the ear
11.1%
Abnormality of the genitourinary system
11.1%
Growth abnormality
11.1%
Abnormality of limbs
5.6%
Abnormality of the endocrine system
5.6%
Abnormality of the immune system
5.6%
Abnormality of the integument
5.6%
Abnormality of the respiratory system
5.6%
Constitutional symptom
5.6%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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