Variant (rsID / SNP)

rs200345491

rs200345491 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN2. Location: chromosome 5, position 127,595,349. Clinical significance in the table: Likely benign.

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Reference-table entries

FBN2Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:127595349
Cytoband: 5q23.3
HGVS: NM_001999.4(FBN2):c.8537G>A (p.Arg2846His)
Allele change: Missense_R2846H

Associated conditions / phenotypes

Congenital contractural arachnodactyly|Cardiovascular phenotype

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.