Variant (rsID / SNP)

rs138220431

rs138220431 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNB. Location: chromosome 3, position 58,089,761. 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: 3:58089761
Cytoband: 3p14.3
HGVS: NM_001457.4(FLNB):c.1559C>T (p.Pro520Leu)
Allele change: Missense_P520L

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.