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Variant (rsID / SNP)

rs267606902

MYH11

rs267606902 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH11. Location: chromosome 16, position 15,841,949. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MYH11Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
16:15841949
Cytoband
16p13.11
HGVS
NM_002474.3(MYH11):c.2135G>A (p.Arg712Gln)
Allele change
Missense_R712Q

Associated conditions / phenotypes

Aortic aneurysm, familial thoracic 4|Familial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.