Variant (rsID / SNP)

rs555068280

rs555068280 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN2. Location: chromosome 5, position 127,872,143. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FBN2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: Deletion
Chromosome / position: 5:127872143
Cytoband: 5q23.3
HGVS: NM_001999.4(FBN2):c.287_289del (p.Tyr96del)

Associated conditions / phenotypes

Familial thoracic aortic aneurysm and aortic dissection|Congenital contractural arachnodactyly|Cardiovascular phenotype

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.