Variant (rsID / SNP)

rs190546350

rs190546350 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH11, NDE1. Location: chromosome 16, position 15,818,811. 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: 16:15818811
Cytoband: 16p13.11
HGVS: NM_002474.3(MYH11):c.3897C>T (p.Ala1299=)
Allele change: Silent

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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