Variant (rsID / SNP)

rs749497185

rs749497185 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYH11. Location: chromosome 16, position 15,835,369. Clinical significance in the table: Pathogenic.

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Reference-table entries

MYH11Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 16:15835369
Cytoband: 16p13.11
HGVS: NM_002474.3(MYH11):c.2809_2810del (p.Arg937fs)

Associated conditions / phenotypes

Aortic aneurysm, familial thoracic 4|Megacystis-microcolon-intestinal hypoperistalsis syndrome 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.