Variant (rsID / SNP)
rs139846706
rs139846706 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNB. Location: chromosome 3, position 58,139,249. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
FLNBConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:58139249
- Cytoband
- 3p14.3
- HGVS
- NM_001457.4(FLNB):c.6515G>A (p.Arg2172His)
- Allele change
- Missense_R2148H
Associated conditions / phenotypes
Connective tissue disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.