Variant (rsID / SNP)
rs200342067
rs200342067 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,773,926. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
FBN1Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:48773926
- Cytoband
- 15q21.1
- HGVS
- NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly)
- Allele change
- Missense_E1297G
Associated conditions / phenotypes
Acromicric dysplasia|Marfan syndrome|Geleophysic dysplasia|Stiff skin syndrome|Familial thoracic aortic aneurysm and aortic dissection|Weill-Marchesani syndrome|Ectopia lentis 1, isolated, autosomal dominant|Cardiovascular phenotype|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.