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Variant (rsID / SNP)

rs144806671

MYLK

rs144806671 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYLK. Location: chromosome 3, position 123,419,516. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYLKConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:123419516
Cytoband
3q21.1
HGVS
NM_053025.4(MYLK):c.2799G>A (p.Val933=)
Allele change
Synonymous_V757V

Associated conditions / phenotypes

Aortic aneurysm, familial thoracic 7|Cardiovascular phenotype

Public references

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