Variant (rsID / SNP)

rs387906781

rs387906781 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYLK. Location: chromosome 3, position 123,339,147. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MYLKPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:123339147
Cytoband: 3q21.1
HGVS: NM_053025.4(MYLK):c.5275T>C (p.Ser1759Pro)
Allele change: Silent

Associated conditions / phenotypes

Aortic aneurysm, familial thoracic 7|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.