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Variant (rsID / SNP)

rs144421849

MYH11NDE1

rs144421849 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH11, NDE1. Location: chromosome 16, position 15,812,241. 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
16:15812241
Cytoband
16p13.11
HGVS
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp)
Allele change
Silent

Associated conditions / phenotypes

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

Public references

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