Variant (rsID / SNP)

rs730880100

rs730880100 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,780,642. 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: 15:48780642
Cytoband: 15q21.1
HGVS: NM_000138.5(FBN1):c.3131G>A (p.Cys1044Tyr)
Allele change: Missense_C1044Y

Associated conditions / phenotypes

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.