Variant (rsID / SNP)
rs375996640
rs375996640 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,780,684. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:48780684
- Cytoband
- 15q21.1
- HGVS
- NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser)
- Allele change
- Missense_N1030S
Associated conditions / phenotypes
Familial thoracic aortic aneurysm and aortic dissection|Stiff skin syndrome|Ectopia lentis 1, isolated, autosomal dominant|Acromicric dysplasia|Marfan syndrome|Geleophysic dysplasia|Weill-Marchesani syndrome|Cardiovascular phenotype|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Connective tissue disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.