Variant (rsID / SNP)

rs80356517

rs80356517 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNB. Location: chromosome 3, position 58,094,188. Clinical significance in the table: Pathogenic.

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Reference-table entries

FLNBPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:58094188
Cytoband: 3p14.3
HGVS: NM_001457.4(FLNB):c.1945C>T (p.Arg649Ter)
Allele change: Nonsense_R649X

Associated conditions / phenotypes

Spondylocarpotarsal synostosis 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.