Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs34321232

MYH11

rs34321232 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH11. Location: chromosome 16, position 15,814,100. Clinical significance in the table: Uncertain significance.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

MYH11Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
16:15814100
Cytoband
16p13.11
HGVS
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)
Allele change
Silent

Associated conditions / phenotypes

Aortic aneurysm, familial thoracic 4|Familial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Connective tissue disorder

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.