Variant (rsID / SNP)

rs200440156

rs200440156 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN2. Location: chromosome 5, position 127,728,870. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FBN2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:127728870
Cytoband: 5q23.3
HGVS: NM_001999.4(FBN2):c.1423G>C (p.Gly475Arg)
Allele change: Missense_G475S

Associated conditions / phenotypes

Congenital contractural arachnodactyly

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.