Annotation Detail
Information
- Associated Genes
- ANKRD11
- Associated Variants
-
ANKRD11 p.Arg733Ter (p.R733*)
(
ENST00000378330.7,
ENST00000301030.10,
ENST00000642600.1 )
ANKRD11 p.Arg733Ter (p.R733*) ( ENST00000301030.10, ENST00000378330.7, ENST00000642600.1 ) - Associated Disease
- KBG syndrome
- Source Database
- ClinVar
- Description
- NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter) AND KBG syndrome
- ClinVar Allele ID
- 264834
- ClinVar RefSeq Alternation Syntax
- NM_013275.6:c.2197C>T
- ClinVar RefSeq Alternation Syntax
- NM_001256183.2:c.2197C>T
- ClinVar RefSeq Alternation Syntax
- NM_001256182.2:c.2197C>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-05-26
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000455520
- ClinVar Disease
- KBG syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- maternal
- Observed Origin Sample
- unknown
Drugs