Variant (rsID / SNP)
rs183306990
rs183306990 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,760,242. 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
- 15:48760242
- Cytoband
- 15q21.1
- HGVS
- NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)
- Allele change
- Missense_T1547I
Associated conditions / phenotypes
Marfan syndrome|MASS syndrome|Familial thoracic aortic aneurysm and aortic dissection|Geleophysic dysplasia|Stiff skin syndrome|Acromicric dysplasia|Weill-Marchesani syndrome|Ectopia lentis|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.