AEBP1
HGNC:303 · SaudiVarKB evidence summary derived from retained literature mentions.
2Gene mentions
2Publications
4Linked variants
1Associated phenotypes
Associated phenotypes
Co-mentioned in AEBP1 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| Ehlers-Danlos syndrome | — | 2 | 2 |
Linked variants
Variants normalized to AEBP1| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.1470delC | c.1470delC | 1 | 1 |
| c.1743C>A | c.1743C>A | 1 | 1 |
| c.1320_1326del | c.1320_1326del | 1 | 1 |
| c.1630+1G>A | c.1630+1G>A | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | 69 | 1 |
Supporting publications
2 records- 2018Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.American journal of human genetics1 mentions
- 2016Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.Human genetics1 mentions