Variant (rsID / SNP)

rs142568031

rs142568031 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNB. Location: chromosome 3, position 57,994,398. 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: 3:57994398
Cytoband: 3p14.3
HGVS: NM_001457.4(FLNB):c.107G>A (p.Arg36His)
Allele change: Missense_R36H

Associated conditions / phenotypes

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.