Gene entry
RASA1
RAS p21 protein activator 1
- Chromosome
- 5
- Cytoband
- 5q14.3
- Variants (rsID)
- 11
RASA1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q14.3). Its official name is “RAS p21 protein activator 1”. The reference table lists 11 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs369251473Conflicting interpretationssingle nucleotide variantCapillary malformation-arteriovenous malformation syndrome
- rs115086172Likely benignsingle nucleotide variantCapillary malformation-arteriovenous malformation 1|Parkes Weber syndrome
- rs182498192Likely benignsingle nucleotide variantCapillary malformation-arteriovenous malformation syndrome
- rs113316011Uncertain significancesingle nucleotide variantCapillary malformation-arteriovenous malformation 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.
