Variant (rsID / SNP)

rs137885421

rs137885421 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNB. Location: chromosome 3, position 58,134,535. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

FLNBConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 3:58134535
Cytoband: 3p14.3
HGVS: NM_001457.4(FLNB):c.6047G>A (p.Arg2016Gln)
Allele change: Missense_R1992Q

Associated conditions / phenotypes

FLNB-Related Spectrum Disorders

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.