Variant (rsID / SNP)

rs1060502531

rs1060502531 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYLK. Location: chromosome 3, position 123,366,197. Clinical significance in the table: Pathogenic.

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Reference-table entries

MYLKPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 3:123366197
Cytoband: 3q21.1
HGVS: NM_053025.4(MYLK):c.4489_4493del (p.Ala1497fs)

Associated conditions / phenotypes

Aortic aneurysm, familial thoracic 7

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.