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COL4A5 - collagen type IV alpha 5 chain
- Synonym(s) :
- Previous symbols and names : ASLN, ATS, Alport syndrome, collagen type IV alpha 5, collagen, type IV, alpha 5
- Type : gene with protein product
- Chromosomal location : Xq22.3
- OMIM: 303630
- HGNC: 2207
- UniProtKB: P29400
- Genatlas: COL4A5
- GenCC: COL4A5
- Ensembl: ENSG00000188153
- IUPHAR-DB: -
- Reactome: P29400
- LOVD: COL4A5
Diseases list
- Disease-causing germline mutation(s) in NON RARE IN EUROPE: Benign familial hematuria
ORPHA:97562 
- Disease-causing germline mutation(s) in X-linked Alport syndrome
ORPHA:88917 - Role in the phenotype of X-linked Alport syndrome-diffuse leiomyomatosis
ORPHA:1018
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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