Variant (rsID / SNP)

rs766004910

rs766004910 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN2. Location: chromosome 5, position 127,730,852. 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: 5:127730852
Cytoband: 5q23.3
HGVS: NM_001999.4(FBN2):c.1194C>T (p.Ile398=)
Allele change: Synonymous_I398I

Associated conditions / phenotypes

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.