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Variant (rsID / SNP)

rs1057518809

FBN1

rs1057518809 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,717,992. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

FBN1Likely pathogenic
Clinical significance (as recorded)
Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
15:48717992
Cytoband
15q21.1
HGVS
NM_000138.5(FBN1):c.7274A>G (p.Tyr2425Cys)
Allele change
Missense_Y2425C

Associated conditions / phenotypes

Polycystic liver disease 1|Autosomal dominant polycystic liver disease|Ascending aortic dissection|Aortic dissection|Aortic dilatation

Public references

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