Variant (rsID / SNP)

rs62621996

rs62621996 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNB. Location: chromosome 3, position 58,134,505. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

FLNBBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:58134505
Cytoband: 3p14.3
HGVS: NM_001457.4(FLNB):c.6017A>G (p.Lys2006Arg)
Allele change: Missense_K1982R

Associated conditions / phenotypes

FLNB-Related Spectrum Disorders|Connective tissue disorder

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.