Gene entry
B4GALT7
beta-1,4-galactosyltransferase 7
- Chromosome
- 5
- Cytoband
- 5q35.3
- Variants (rsID)
- 7
B4GALT7 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q35.3). Its official name is “beta-1,4-galactosyltransferase 7”. The reference table lists 7 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs142476892Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome progeroid type|Ehlers-Danlos syndrome
- rs121917817Pathogenicsingle nucleotide variantEhlers-Danlos syndrome progeroid type
- rs187063864Pathogenicsingle nucleotide variantEhlers-Danlos syndrome progeroid type
- rs28937869Pathogenicsingle nucleotide variantEhlers-Danlos syndrome progeroid type|Larsen-like syndrome, B3GAT3 type|Lethal skeletal dysplasia
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.