S1535N (p.Ser1535Asn) variant of FLNB (Filamin-B)
S1535N (p.Ser1535Asn) in FLNB (Filamin-B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Larsen syndrome. The record also includes published literature and structural context.
S1535N (p.Ser1535Asn) variant details
- p.Ser1535Asn
- rs2471161029
- ClinGen CA353351755
- ClinVar RCV002283427
- NCI-TCGA Cosmic COSV9991
- Likely pathogenic
- Larsen syndrome
- Missense
- ClinVar: Likely pathogenic (Larsen syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: FLNB-Related Disorders. (PMID 20301736)