Variant (rsID / SNP)

rs794728316

rs794728316 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,730,062. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FBN1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: Microsatellite
Chromosome / position: 15:48730062
Cytoband: 15q21.1
HGVS: NM_000138.5(FBN1):c.6211TCA[1] (p.Ser2072del)

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.