R553H (p.Arg553His) variant of FOXP2 (Forkhead box protein P2)
R553H (p.Arg553His) in FOXP2 (Forkhead box protein P2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Childhood apraxia of speech. The record also includes published literature.
R553H (p.Arg553His) variant details
- p.Arg553His
- rs121908377
- ClinGen CA117244
- NCI-TCGA Cosmic COSV6349
- cosmic curated COSV63496
- Pathogenic/Likely pathogenic
- Childhood apraxia of speech
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Childhood apraxia of speech)
- EBI: Pathogenic (in SPCH1)
- UniProt: Pathogenic (in SPCH1)
- Cited in: A forkhead-domain gene is mutated in a severe speech and language disorder. (PMID 11586359)
- Cited in: Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex. (PMID 20858596)