H28F (p.His28Phe) variant of TBK1 (Q9UHD2)
H28F (p.His28Phe) in TBK1 (Q9UHD2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Frontotemporal dementia and/or amyotrophic lateral sclerosis 4. The record also includes published literature and structural context.
H28F (p.His28Phe) variant details
- p.His28Phe
- rs2136052800
- ClinGen CA2573148934
- ClinVar RCV001973136
- Ensembl rs2136052800
- Uncertain significance
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
- Missense
- ClinVar: Uncertain significance (Frontotemporal dementia and/or amyotrophic lateral sclerosis 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)