Variant (rsID / SNP)

rs1246984265

rs1246984265 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,729,576. 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: 15:48729576
Cytoband: 15q21.1
HGVS: NM_000138.5(FBN1):c.6322C>T (p.Arg2108Cys)
Allele change: Missense_R2108C

Associated conditions / phenotypes

Marfan syndrome|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.