Annotation Detail
Information
- Associated Genes
- CHAF1B
- Associated Variants
-
CHAF1B p.Ile166Val (p.I166V)
(
ENST00000314103.6 )
CHAF1B p.Ile166Val (p.I166V) ( ENST00000314103.6 ) - Associated Disease
- Global developmental delay intellectual disability attention deficit hyperactivity disorder
- Source Database
- ClinVar
- Description
- NM_005441.3(CHAF1B):c.496A>G (p.Ile166Val) AND multiple conditions
- ClinVar Allele ID
- 181465
- ClinVar RefSeq Alternation Syntax
- NM_005441.3:c.496A>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2014-12-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000162182
- ClinVar Disease
- Global developmental delay
- ClinVar Disease
- Intellectual disability
- ClinVar Disease
- Attention deficit hyperactivity disorder
- Observed Origin Sample
- germline
Drugs