Variant (rsID / SNP)

rs138457751

rs138457751 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN3. Location: chromosome 19, position 8,152,724. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FBN3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 19:8152724
Cytoband: 19p13.2
HGVS: NM_032447.5(FBN3):c.6604G>A (p.Gly2202Arg)
Allele change: Missense_G2202R

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.