Variant (rsID / SNP)

rs41366751

rs41366751 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYLK. Location: chromosome 3, position 123,367,884. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MYLKBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:123367884
Cytoband: 3q21.1
HGVS: NM_053025.4(MYLK):c.4349G>A (p.Arg1450Gln)
Allele change: Missense_R1274Q

Associated conditions / phenotypes

Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection|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.