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Variant (rsID / SNP)

rs142546324

MYH11

rs142546324 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH11. Location: chromosome 16, position 15,812,194. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYH11Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:15812194
Cytoband
16p13.11
HGVS
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln)
Allele change
Silent

Associated conditions / phenotypes

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

Public references

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