Variant (rsID / SNP)

rs1057520131

rs1057520131 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,800,830. Clinical significance in the table: Pathogenic.

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Reference-table entries

FBN1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:48800830
Cytoband: 15q21.1
HGVS: NM_000138.5(FBN1):c.1786T>G (p.Cys596Gly)
Allele change: Missense_C596G

Associated conditions / phenotypes

Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection

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.