Variant (rsID / SNP)
rs16967494
rs16967494 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH11, NDE1. Location: chromosome 16, position 15,820,863. Clinical significance in the table: Benign.
Reference-table entries
MYH11Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 16:15820863
- Cytoband
- 16p13.11
- HGVS
- NM_002474.3(MYH11):c.3700G>A (p.Ala1234Thr)
- Allele change
- Missense_A1234T
Associated conditions / phenotypes
Familial thoracic aortic aneurysm and aortic dissection|Lissencephaly, Recessive|Cardiovascular phenotype|Aortic aneurysm, familial thoracic 4|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2|VISCERAL MYOPATHY 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.