Variant (rsID / SNP)

rs2272554

rs2272554 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH11. Location: chromosome 16, position 15,850,204. Clinical significance in the table: Benign.

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Reference-table entries

MYH11Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:15850204
Cytoband: 16p13.11
HGVS: NM_002474.3(MYH11):c.1743T>C (p.Ala581=)
Allele change: Synonymous_A581A

Associated conditions / phenotypes

Familial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Aortic aneurysm, familial thoracic 4|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2|VISCERAL MYOPATHY 2

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.