Variant (rsID / SNP)

rs387906624

rs387906624 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,755,321. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

FBN1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:48755321
Cytoband: 15q21.1
HGVS: NM_000138.5(FBN1):c.5182G>A (p.Ala1728Thr)
Allele change: Missense_A1728T

Associated conditions / phenotypes

Geleophysic dysplasia 2|Acromicric dysplasia

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.