Variant (rsID / SNP)

rs147008323

rs147008323 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYLK. Location: chromosome 3, position 123,427,662. 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: 3:123427662
Cytoband: 3q21.1
HGVS: NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg)
Allele change: Missense_G499R

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.