Annotation Detail
Information
- Associated Genes
- SYN1 TIMP1
- Associated Variants
-
SYN1 c.775-8085A>G, TIMP1 p.Phe124= (p.F124=)
(
ENST00000295987.13,
ENST00000340666.5,
ENST00000218388.9,
ENST00000377017.5,
ENST00000456754.6 )
SYN1 c.775-8085A>G, TIMP1 p.Phe124= (p.F124=) ( ENST00000295987.13, ENST00000340666.5, ENST00000218388.9, ENST00000377017.5, ENST00000456754.6 ) - Associated Disease
- Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
- Source Database
- ClinVar
- Description
- NM_006950.3(SYN1):c.775-8085A>G AND Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
- ClinVar Allele ID
- 1159674
- ClinVar RefSeq Alternation Syntax
- NM_006950.3:c.775-8085A>G
- ClinVar RefSeq Alternation Syntax
- NM_133499.2:c.775-8085A>G
- ClinVar RefSeq Alternation Syntax
- NM_003254.3:c.372T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001513027
- ClinVar Disease
- Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
- Observed Origin Sample
- germline
Drugs