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Variant (rsID / SNP)

rs143258617

MYLK

rs143258617 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYLK. Location: chromosome 3, position 123,367,885. 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
3:123367885
Cytoband
3q21.1
HGVS
NM_053025.4(MYLK):c.4348C>T (p.Arg1450Trp)
Allele change
Missense_R1274W

Associated conditions / phenotypes

Cardiovascular phenotype|Aortic aneurysm, familial thoracic 7

Public references

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