Variant (rsID / SNP)

rs12172926

rs12172926 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYLK. Location: chromosome 3, position 123,419,288. Clinical significance in the table: Benign.

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Reference-table entries

MYLKBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:123419288
Cytoband: 3q21.1
HGVS: NM_053025.4(MYLK):c.3027G>A (p.Glu1009=)
Allele change: Synonymous_E833E

Associated conditions / phenotypes

Cardiovascular phenotype|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.