Variant (rsID / SNP)

rs112642323

rs112642323 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,704,844. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

FBN1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:48704844
Cytoband: 15q21.1
HGVS: NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter)
Allele change: Nonsense_Y2716X

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.