Variant (rsID / SNP)

rs139052603

rs139052603 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN2. Location: chromosome 5, position 127,671,227. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FBN2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:127671227
Cytoband: 5q23.3
HGVS: NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg)
Allele change: Missense_Q1256R

Associated conditions / phenotypes

Cardiovascular phenotype|Congenital contractural arachnodactyly|Ehlers-Danlos syndrome

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.