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Variant (rsID / SNP)

rs138172035

MYLK

rs138172035 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYLK. Location: chromosome 3, position 123,427,717. 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
3:123427717
Cytoband
3q21.1
HGVS
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys)
Allele change
Missense_W480C

Associated conditions / phenotypes

Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 7|Cardiovascular phenotype|Connective tissue disorder

Public references

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