Variant (rsID / SNP)

rs1801167

rs1801167 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN2. Location: chromosome 5, position 127,681,122. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

FBN2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:127681122
Cytoband: 5q23.3
HGVS: NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=)
Allele change: Synonymous_Y1048Y

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.