Variant (rsID / SNP)

rs1064793113

rs1064793113 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,780,364. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

FBN1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:48780364
Cytoband: 15q21.1
HGVS: NM_000138.5(FBN1):c.3283T>A (p.Cys1095Ser)
Allele change: Missense_C1095S

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.