Annotation Detail
Information
- Associated Genes
- MYBPC3
- Associated Variants
-
MYBPC3 c.26-2A>G
(
ENST00000545968.6,
ENST00000399249.6 )
MYBPC3 c.26-2A>G ( ENST00000399249.6, ENST00000545968.6 ) - Associated Disease
- intellectual disability
- Source Database
- ClinVar
- Description
- NM_000256.3(MYBPC3):c.26-2A>G AND Intellectual disability
- ClinVar Allele ID
- 51814
- ClinVar RefSeq Alternation Syntax
- NM_000256.3:c.26-2A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-08-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001255329
- ClinVar Disease
- Intellectual disability
- Observed Origin Sample
- unknown
Drugs