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CERT1

Synonyms
CERT, CERTL, COL4A3BP, GPBP, MRD34, STARD11
External resources
Summary
This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene.

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
0
Likely pathogenic
0
VUS
530
Likely benign
816
Benign
1,470

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on CERT1 gene.

Phenotype class
Patients in 3billion (%)

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