Variant (rsID / SNP)

rs200060005

rs200060005 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN2. Location: chromosome 5, position 127,674,667. 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: 5:127674667
Cytoband: 5q23.3
HGVS: NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys)
Allele change: Missense_E1144K

Associated conditions / phenotypes

Macular degeneration, early-onset|Cardiovascular phenotype|Congenital contractural arachnodactyly|Connective tissue disorder

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.