Variant (rsID / SNP)

rs116826041

rs116826041 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FLNB. Location: chromosome 3, position 58,145,348. 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: 3:58145348
Cytoband: 3p14.3
HGVS: NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr)
Allele change: Missense_I2295T

Associated conditions / phenotypes

FLNB-Related Spectrum Disorders|Larsen syndrome|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.