Variant (rsID / SNP)
rs137854475
rs137854475 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,779,352. 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
- 15:48779352
- Cytoband
- 15q21.1
- HGVS
- NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
- Allele change
- Missense_R1170H
Associated conditions / phenotypes
Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Geleophysic dysplasia|Weill-Marchesani syndrome|Ectopia lentis 1, isolated, autosomal dominant|Stiff skin syndrome|Acromicric dysplasia|MASS syndrome|Cardiovascular phenotype|8 conditions|MASS syndrome|Ectopia lentis|Weill-Marchesani syndrome|Congenital aneurysm of ascending aorta|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Disproportionate tall stature
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.