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COL7A1

Synonyms
EBD1, EBDCT, EBR1, NDNC8
External resources
Summary
This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
119
Likely pathogenic
17
VUS
18,373
Likely benign
3,773
Benign
2,223

Patient phenotypes

Proportions of phenotypes among 132 patients carrying pathogenic or likely pathogenic variants on COL7A1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
28%
Abnormality of the integument
20.5%
Abnormality of the musculoskeletal system
20.5%
Abnormality of the eye
15.2%
Abnormality of the ear
13.6%
Abnormality of head or neck
12.9%
Abnormality of the genitourinary system
10.6%
Abnormality of the cardiovascular system
9.8%
Abnormality of blood and blood-forming tissues
8.3%
Abnormality of the immune system
8.3%
Growth abnormality
7.6%
Abnormality of limbs
6.1%
Abnormality of the digestive system
6.1%
Abnormality of the respiratory system
3.8%
Neoplasm
3.8%
Abnormality of prenatal development or birth
2.3%
Abnormality of the endocrine system
1.5%
Abnormal cellular phenotype
0.8%
Abnormality of the breast
0.8%
Abnormality of the voice
0.8%
Constitutional symptom
0.8%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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