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rs397515770 has not been reported to ClinVar. Refer to dbSNP record rs397515770 for details on variation at this location. Please consider submitting your interpretation of this variant to ClinVar

Genetic variation

rs397515770

  • Clinical significance: not reported in ClinVar
  • Reference allele: C
  • Variation alleles: A, G
  • Variation type: single nucleotide variation
  • Organism: Homo sapiens
  • GRCh38.p14: NC_000015.10: 48,495,560
  • GRCh37.p13: NC_000015.9: 48,787,757
Genome Data Viewer

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBN1
(C816F)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN1
(C816S)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic