Variant (rsID / SNP)
rs5030766
rs5030766 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACTA2, FAS. Location: chromosome 10, position 90,750,600. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
ACTA2Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:90750600
- Cytoband
- 10q23.31
- HGVS
- NM_000043.6(FAS):c.-34A>G
- Allele change
- Silent
Associated conditions / phenotypes
Multisystemic smooth muscle dysfunction syndrome|Familial thoracic aortic aneurysm and aortic dissection|Autoimmune lymphoproliferative syndrome type 1|Moyamoya disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
