Variant (rsID / SNP)

rs886038953

rs886038953 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,787,358. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

FBN1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 15:48787358
Cytoband: 15q21.1
HGVS: NM_000138.5(FBN1):c.2639G>A (p.Gly880Asp)
Allele change: Missense_G880D

Associated conditions / phenotypes

Cardiovascular phenotype|Isolated thoracic aortic aneurysm

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.