Variant (rsID / SNP)

rs193922629

rs193922629 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH11. Location: chromosome 16, position 15,831,366. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MYH11Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:15831366
Cytoband: 16p13.11
HGVS: NM_002474.3(MYH11):c.3233T>C (p.Ile1078Thr)
Allele change: Missense_I1078T

Associated conditions / phenotypes

Aortic aneurysm, familial thoracic 4|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.