Annotation Detail
Information
- Associated Genes
- FOXP2
- Associated Variants
-
FOXP2 p.Arg578His (p.R578H)
(
ENST00000350908.9,
ENST00000393494.6,
ENST00000393498.6,
ENST00000403559.9,
ENST00000408937.7,
ENST00000634411.1,
ENST00000635534.1,
ENST00000635638.1,
ENST00000703612.1,
ENST00000703613.1,
ENST00000703614.1,
ENST00000703616.1 )
FOXP2 p.Arg578His (p.R578H) ( ENST00000350908.9, ENST00000393494.6, ENST00000393498.6, ENST00000403559.9, ENST00000408937.7, ENST00000634411.1, ENST00000635534.1, ENST00000635638.1, ENST00000703612.1, ENST00000703613.1, ENST00000703614.1, ENST00000703616.1 ) - Associated Disease
- Childhood apraxia of speech
- Source Database
- ClinVar
- Description
- NM_014491.4(FOXP2):c.1658G>A (p.Arg553His) AND Childhood apraxia of speech
- ClinVar Allele ID
- 20106
- ClinVar RefSeq Alternation Syntax
- NM_148898.4:c.1733G>A
- ClinVar RefSeq Alternation Syntax
- NM_148900.4:c.1709G>A
- ClinVar RefSeq Alternation Syntax
- NM_001172766.3:c.1655G>A
- ClinVar RefSeq Alternation Syntax
- NM_014491.4:c.1658G>A
- ClinVar RefSeq Alternation Syntax
- NR_033766.2:n.2026G>A
- ClinVar RefSeq Alternation Syntax
- NR_033767.2:n.2272G>A
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2022-10-26
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000005371
- ClinVar Disease
- Childhood apraxia of speech
- Observed Origin Sample
- germline
- Observed Origin Sample
- de novo
- Observed Origin Sample
- unknown
- Pubmed
- 2332125
- Pubmed
- 22434823
- Pubmed
- 11586359
- Pubmed
- 20858596
Drugs