Variant (rsID / SNP)
rs150759461
rs150759461 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH11. Location: chromosome 16, position 15,872,688. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MYH11Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:15872688
- Cytoband
- 16p13.11
- HGVS
- NM_002474.3(MYH11):c.739C>T (p.Arg247Cys)
- Allele change
- Missense_R247C
Associated conditions / phenotypes
Altered myosin contractile function|Loeys-Dietz syndrome|Aortic aneurysm, familial thoracic 4|Inborn genetic diseases|Connective tissue disorder|Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 4|Congenital aneurysm of ascending aorta
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.