Annotation Detail
Information
- Associated Genes
- RHOBTB2
- Associated Variants
-
RHOBTB2 p.Arg511Trp (p.R511W)
(
ENST00000251822.7,
ENST00000519685.5,
ENST00000522948.5,
ENST00000692529.1 )
RHOBTB2 p.Arg511Trp (p.R511W) ( ENST00000251822.7, ENST00000519685.5, ENST00000522948.5, ENST00000692529.1 ) - Associated Disease
- Developmental and epileptic encephalopathy, 64
- Source Database
- ClinVar
- Description
- NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) AND Developmental and epileptic encephalopathy, 64
- ClinVar Allele ID
- 486748
- ClinVar RefSeq Alternation Syntax
- NM_001374791.1:c.1465C>T
- ClinVar RefSeq Alternation Syntax
- NM_001160036.2:c.1531C>T
- ClinVar RefSeq Alternation Syntax
- NM_015178.3:c.1465C>T
- ClinVar RefSeq Alternation Syntax
- NM_001160037.2:c.1486C>T
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2024-03-25
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000656374
- ClinVar Disease
- Developmental and epileptic encephalopathy, 64
- Observed Origin Sample
- germline
- Observed Origin Sample
- de novo
- Observed Origin Sample
- unknown
- Pubmed
- 29276004
Drugs