Variant (rsID / SNP)
rs200816828
rs200816828 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,729,976. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
FBN1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:48729976
- Cytoband
- 15q21.1
- HGVS
- NM_000138.5(FBN1):c.6302C>T (p.Thr2101Met)
- Allele change
- Missense_T2101M
Associated conditions / phenotypes
Cardiovascular phenotype|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Connective tissue disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.