M129V (p.Met129Val) variant of KRT12 (Keratin, type I cytoskeletal 12)
M129V (p.Met129Val) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Inborn genetic diseases. The record also includes published literature and structural context.
M129V (p.Met129Val) variant details
- p.Met129Val
- rs267607387
- ClinGen CA216511
- ClinVar RCV000056416
- ClinVar RCV000623893
- Pathogenic/Likely pathogenic
- not provided; Inborn genetic diseases
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Inborn genetic diseases)
- EBI: Pathogenic (in MECD1)
- UniProt: Pathogenic (in MECD1)
- Structural context available
- Cited in: Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a… (PMID 20577595)
- Cited in: A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy. (PMID 10612503)