Variant (rsID / SNP)

rs727504642

rs727504642 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,736,816. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FBN1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 15:48736816
Cytoband: 15q21.1
HGVS: NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg)
Allele change: Missense_G1987R

Associated conditions / phenotypes

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.