Gene entry
CAV1
caveolin 1
- Chromosome
- 7
- Cytoband
- 7q31.2
- Variants (rsID)
- 14
CAV1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7q31.2). Its official name is “caveolin 1”. The reference table lists 14 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs35697540Benignsingle nucleotide variantPulmonary hypertension, primary, 3
- rs201966419Conflicting interpretationssingle nucleotide variantPulmonary hypertension, primary, 3|Monogenic diabetes
- rs797044871PathogenicDeletionInborn genetic diseases|Congenital generalized lipodystrophy type 3|Pulmonary hypertension, primary, 3|Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
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.