Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs138059405

MYH11NDE1

rs138059405 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH11, NDE1. Location: chromosome 16, position 15,812,192. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

MYH11Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:15812192
Cytoband
16p13.11
HGVS
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile)
Allele change
Silent

Associated conditions / phenotypes

Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 4|Lissencephaly, Recessive|Cardiovascular phenotype

Public references

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