Variant (rsID / SNP)

rs1060501038

rs1060501038 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,812,869. Clinical significance in the table: Pathogenic.

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Reference-table entries

FBN1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 15:48812869
Cytoband: 15q21.1
HGVS: NM_000138.5(FBN1):c.1134del (p.Ile379fs)

Associated conditions / phenotypes

Marfan syndrome|Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome

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.