Gene entry
ITGB4
integrin subunit beta 4
- Chromosome
- 17
- Cytoband
- 17q25.1
- Variants (rsID)
- 24
ITGB4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q25.1). Its official name is “integrin subunit beta 4”. The reference table lists 24 variants (rsID) for this gene.
Clinically classified variants
10 reference-table entries with clinical significance.
- rs143203816Benignsingle nucleotide variantJunctional epidermolysis bullosa with pyloric atresia
- rs145976111Benignsingle nucleotide variantJunctional epidermolysis bullosa with pyloric atresia|Nephrotic syndrome
- rs61735289Benignsingle nucleotide variantJunctional epidermolysis bullosa with pyloric atresia
- rs140575355Likely benignsingle nucleotide variantJunctional epidermolysis bullosa with pyloric atresia
- rs183705877Likely benignsingle nucleotide variantJunctional epidermolysis bullosa with pyloric atresia
- rs121912463Pathogenicsingle nucleotide variantJunctional epidermolysis bullosa with pyloric atresia
- rs121912467Pathogenicsingle nucleotide variantJunctional epidermolysis bullosa with pyloric atresia
- rs147222357Pathogenicsingle nucleotide variantJunctional epidermolysis bullosa with pyloric atresia
- rs80338755Pathogenicsingle nucleotide variantJunctional epidermolysis bullosa with pyloric atresia
- rs200122430Uncertain significancesingle nucleotide variantJunctional epidermolysis bullosa with pyloric atresia
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.
