Variant (rsID / SNP)
rs142888621
rs142888621 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,818,413. 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
- 15:48818413
- Cytoband
- 15q21.1
- HGVS
- NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
- Allele change
- Missense_G301V
Associated conditions / phenotypes
Stiff skin syndrome|Geleophysic dysplasia|Ectopia lentis 1, isolated, autosomal dominant|Weill-Marchesani syndrome|Marfan syndrome|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Familial thoracic aortic aneurysm and aortic dissection|Acromicric dysplasia|Cardiovascular phenotype
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.