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Variant (rsID / SNP)

rs149482336

MYLK

rs149482336 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYLK. Location: chromosome 3, position 123,419,396. 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
3:123419396
Cytoband
3q21.1
HGVS
NM_053025.4(MYLK):c.2919G>A (p.Pro973=)
Allele change
Synonymous_P797P

Associated conditions / phenotypes

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.