Variant (rsID / SNP)

rs200315340

rs200315340 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH11. Location: chromosome 16, position 15,831,403. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MYH11Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:15831403
Cytoband: 16p13.11
HGVS: NM_002474.3(MYH11):c.3196G>A (p.Asp1066Asn)
Allele change: Missense_D1066N

Associated conditions / phenotypes

Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 4

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.