Annotation Detail
Information
- Associated Genes
- FOXP2
- Associated Variants
-
FOXP2 p.Arg353Ter (p.R353*)
(
ENST00000350908.9,
ENST00000360232.8,
ENST00000378237.7,
ENST00000390668.3,
ENST00000393494.6,
ENST00000393498.6,
ENST00000403559.9,
ENST00000408937.7,
ENST00000634411.1,
ENST00000635534.1,
ENST00000635638.1,
ENST00000703612.1,
ENST00000703613.1,
ENST00000703614.1,
ENST00000703616.1 )
FOXP2 p.Arg353Ter (p.R353*) ( ENST00000350908.9, ENST00000360232.8, ENST00000378237.7, ENST00000390668.3, ENST00000393494.6, ENST00000393498.6, ENST00000403559.9, ENST00000408937.7, ENST00000634411.1, ENST00000635534.1, ENST00000635638.1, ENST00000703612.1, ENST00000703613.1, ENST00000703614.1, ENST00000703616.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_014491.4(FOXP2):c.982C>T (p.Arg328Ter) AND not provided
- ClinVar Allele ID
- 20107
- ClinVar RefSeq Alternation Syntax
- NM_148899.3:c.982C>T
- ClinVar RefSeq Alternation Syntax
- NR_033767.2:n.1596C>T
- ClinVar RefSeq Alternation Syntax
- NM_148900.4:c.1033C>T
- ClinVar RefSeq Alternation Syntax
- NM_014491.4:c.982C>T
- ClinVar RefSeq Alternation Syntax
- NM_001172766.3:c.979C>T
- ClinVar RefSeq Alternation Syntax
- NM_148898.4:c.1057C>T
- ClinVar RefSeq Alternation Syntax
- NM_001172767.2:c.1057C>T
- ClinVar RefSeq Alternation Syntax
- NR_033766.2:n.1552C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-02-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001291622
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs