Annotation Detail
Information
- Associated Genes
- FOXP2
- Associated Variants
-
FOXP2 p.Asn622His (p.N622H)
(
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.Asn622His (p.N622H) ( 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.1789A>C (p.Asn597His) AND Childhood apraxia of speech
- ClinVar Allele ID
- 244039
- ClinVar RefSeq Alternation Syntax
- NM_148898.4:c.1864A>C
- ClinVar RefSeq Alternation Syntax
- NM_148900.4:c.1840A>C
- ClinVar RefSeq Alternation Syntax
- NM_001172766.3:c.1786A>C
- ClinVar RefSeq Alternation Syntax
- NR_033767.2:n.2403A>C
- ClinVar RefSeq Alternation Syntax
- NM_014491.4:c.1789A>C
- ClinVar RefSeq Alternation Syntax
- NR_033766.2:n.2157A>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-01-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000234955
- ClinVar Disease
- Childhood apraxia of speech
- Observed Origin Sample
- germline
Drugs