Variant (rsID / SNP)

rs9844788

rs9844788 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYLK. Location: chromosome 3, position 123,376,274. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MYLKBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:123376274
Cytoband: 3q21.1
HGVS: NM_053025.4(MYLK):c.3987T>G (p.Asp1329Glu)
Allele change: Missense_D1153E

Associated conditions / phenotypes

Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection|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.