Variant (rsID / SNP)

rs35156360

rs35156360 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYLK. Location: chromosome 3, position 123,451,932. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

MYLKBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:123451932
Cytoband: 3q21.1
HGVS: NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser)
Allele change: Missense_P267S

Associated conditions / phenotypes

Aortic aneurysm, familial thoracic 7|Cardiovascular phenotype

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.