Variant (rsID / SNP)

rs768134055

rs768134055 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYLK. Location: chromosome 3, position 123,427,566. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MYLKUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:123427566
Cytoband: 3q21.1
HGVS: NM_053025.4(MYLK):c.2119C>T (p.Gln707Ter)
Allele change: Nonsense_Q531X

Associated conditions / phenotypes

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.