Variant (rsID / SNP)

rs13268

rs13268 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBLN1. Location: chromosome 22, position 45,996,298. Clinical significance in the table: Benign.

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Reference-table entries

FBLN1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:45996298
Cytoband: 22q13.31
HGVS: NM_006486.3(FBLN1):c.2084A>G (p.His695Arg)
Allele change: Missense_H695R

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.