Home > Gene Browser > COL14A1

COL14A1

Synonyms
UND
External resources
Summary
This gene encodes the alpha chain of type XIV collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril surface and is involved in the regulation of fibrillogenesis.

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
39
Likely pathogenic
1
VUS
8,027
Likely benign
3,304
Benign
0

Patient phenotypes

Proportions of phenotypes among 27 patients carring pathogenic or likely pathogenic variants on COL14A1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37%
Abnormality of the eye
29.6%
Abnormality of the musculoskeletal system
29.6%
Abnormality of the cardiovascular system
18.5%
Abnormality of limbs
11.1%
Abnormality of the digestive system
11.1%
Abnormality of the ear
7.4%
Abnormality of the immune system
7.4%
Growth abnormality
7.4%
Abnormality of blood and blood-forming tissues
3.7%
Abnormality of the endocrine system
3.7%
Abnormality of the genitourinary system
3.7%
Abnormality of the integument
3.7%
Constitutional symptom
3.7%
Abnormal cellular phenotype
0%
Abnormality of head or neck
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
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