Gene entry
MYLK
myosin light chain kinase
- Chromosome
- 3
- Cytoband
- 3q21.1
- Variants (rsID)
- 91
MYLK is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3q21.1). Its official name is “myosin light chain kinase”. The reference table lists 91 variants (rsID) for this gene.
Clinically classified variants
30 reference-table entries with clinical significance.
- rs12172926Benignsingle nucleotide variantCardiovascular phenotype|Aortic aneurysm, familial thoracic 7
- rs147008323Benignsingle nucleotide variantCardiovascular phenotype|Aortic aneurysm, familial thoracic 7
- rs28497577Benignsingle nucleotide variantCardiovascular phenotype|Aortic aneurysm, familial thoracic 7
- rs35156360Benignsingle nucleotide variantAortic aneurysm, familial thoracic 7|Cardiovascular phenotype
- rs3732485Benignsingle nucleotide variantAortic aneurysm, familial thoracic 6|Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 7|Cardiovascular phenotype
- rs3732486Benignsingle nucleotide variantAortic aneurysm, familial thoracic 7|Cardiovascular phenotype
- rs3732487Benignsingle nucleotide variantAortic aneurysm, familial thoracic 7|Cardiovascular phenotype
- rs3796164Benignsingle nucleotide variantCardiovascular phenotype|Aortic aneurysm, familial thoracic 7
- rs41366751Benignsingle nucleotide variantCardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 7
- rs56262958Benignsingle nucleotide variantAortic aneurysm, familial thoracic 7|Familial thoracic aortic aneurysm and aortic dissection
- rs6438804Benignsingle nucleotide variantAortic aneurysm, familial thoracic 7
- rs9844788Benignsingle nucleotide variantCardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 7
- rs138172035Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 7|Cardiovascular phenotype|Connective tissue disorder
- rs140148380Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Aortic aneurysm, familial thoracic 7|Familial thoracic aortic aneurysm and aortic dissection|Megacystis, microcolon, hypoperistalsis syndrome|Congenital aneurysm of ascending aorta
- rs142220417Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 7|Cardiovascular phenotype
- rs143258617Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Aortic aneurysm, familial thoracic 7
- rs144806671Conflicting interpretationssingle nucleotide variantAortic aneurysm, familial thoracic 7|Cardiovascular phenotype
- rs147735490Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 7
- rs149482336Conflicting interpretationssingle nucleotide variantAortic aneurysm, familial thoracic 7
- rs199789942Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 7
- rs201754358Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Aortic aneurysm, familial thoracic 7
- rs376457425Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Aortic aneurysm, familial thoracic 7
- rs570821069Conflicting interpretationsMicrosatelliteFamilial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 7
- rs76655666Conflicting interpretationssingle nucleotide variantAortic aneurysm, familial thoracic 7
- rs78118111Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 7|Cardiovascular phenotype
- rs886038709Conflicting interpretationssingle nucleotide variantAortic aneurysm, familial thoracic 7
- rs1430822242Likely pathogenicsingle nucleotide variantAortic aneurysm, familial thoracic 7
- rs1060502531PathogenicDeletionAortic aneurysm, familial thoracic 7
- rs387906781Pathogenicsingle nucleotide variantAortic aneurysm, familial thoracic 7|Familial thoracic aortic aneurysm and aortic dissection
- rs768134055Uncertain significancesingle nucleotide variantAortic aneurysm, familial thoracic 7
Other listed variants
- rs820323
- rs820325
- rs820336
- rs820371
- rs820470
- rs875521
- rs1471701
- rs2605419
- rs2877734
- rs3863980
- rs4118370
- rs4297993
- rs4678064
- rs6790047
- rs6790975
- rs7632625
- rs9836287
- rs9837215
- rs10511418
- rs10511420
- rs11707609
- rs11714297
- rs13073584
- rs13080634
- rs16834493
- rs17299640
- rs17373884
- rs34113768
- rs34261801
- rs41271433
- rs41302194
- rs55929166
- rs56139900
- rs58036435
- rs62262907
- rs62264623
- rs72626346
- rs73200095
- rs73201838
- rs76810901
- rs77830023
- rs77943069
- rs78442149
- rs80166515
- rs111899223
- rs113695387
- rs114290864
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.