Variant (rsID / SNP)

rs1060501044

rs1060501044 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,730,069. 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: 15:48730069
Cytoband: 15q21.1
HGVS: NM_000138.5(FBN1):c.6209G>T (p.Cys2070Phe)
Allele change: Missense_C2070F

Associated conditions / phenotypes

Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|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.