Q61* (p.Gln61Ter) variant of FLNC (Filamin-C)
Q61* (p.Gln61Ter) in FLNC (Filamin-C) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q61* (p.Gln61Ter) variant details
- p.Gln61Ter
- rs2128932161
- ClinGen CA369216225
- ClinVar RCV006609253
- Ensembl rs2128932161
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)