Variant (rsID / SNP)

rs387906622

rs387906622 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FBN1. Location: chromosome 15, position 48,755,407. Clinical significance in the table: Pathogenic.

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Reference-table entries

FBN1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 15:48755407
Cytoband: 15q21.1
HGVS: NM_000138.5(FBN1):c.5096A>G (p.Tyr1699Cys)
Allele change: Missense_Y1699C

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.