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Variant (rsID / SNP)

rs202050092

FBN2

rs202050092 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN2. Location: chromosome 5, position 127,680,124. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FBN2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:127680124
Cytoband
5q23.3
HGVS
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His)
Allele change
Missense_R1099H

Associated conditions / phenotypes

Cardiovascular phenotype|Congenital contractural arachnodactyly|Ehlers-Danlos syndrome

Public references

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