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
- Rett syndrome
- Source Database
- ClinVar
- Description
- NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) AND Rett syndrome
- 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
- Likely pathogenic
- Clinical Significance Last Update
- 2018-01-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000585816
- ClinVar Disease
- Rett syndrome
- Observed Origin Sample
- de novo
Drugs