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COL4A5

Synonyms
ASLN, ATS, ATS1, CA54
External resources
Summary
This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively spliced transcript variants have been identified for this gene.

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
32
Likely pathogenic
7
VUS
2,442
Likely benign
8,268
Benign
8,845

Patient phenotypes

Proportions of phenotypes among 30 patients carrying pathogenic or likely pathogenic variants on COL4A5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the genitourinary system
53.3%
Abnormality of the ear
26.7%
Abnormality of the nervous system
13.3%
Abnormality of the eye
10%
Abnormality of head or neck
6.7%
Abnormality of the cardiovascular system
3.3%
Abnormality of the immune system
3.3%
Abnormality of the integument
3.3%
Abnormality of the musculoskeletal system
3.3%
Growth abnormality
3.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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