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Variant (rsID / SNP)

rs548605398

FBN2

rs548605398 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN2. Location: chromosome 5, position 127,710,374. 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
5:127710374
Cytoband
5q23.3
HGVS
NM_001999.4(FBN2):c.2042G>A (p.Arg681His)
Allele change
Missense_R681H

Associated conditions / phenotypes

Congenital contractural arachnodactyly|Cardiovascular phenotype

Public references

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