Variant (rsID / SNP)
rs113363750
rs113363750 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH11. Location: chromosome 16, position 15,931,819. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
MYH11Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:15931819
- Cytoband
- 16p13.11
- HGVS
- NM_002474.3(MYH11):c.291C>T (p.Asn97=)
- Allele change
- Synonymous_N97N
Associated conditions / phenotypes
Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 4|Cardiovascular phenotype
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
