Annotation Detail
Information
- Associated Genes
- MAOA
- Associated Variants
-
MAOA p.Val244Ile (p.V244I)
(
ENST00000338702.4,
ENST00000542639.6,
ENST00000686683.1,
ENST00000688006.1,
ENST00000689087.1,
ENST00000693128.1 )
MAOA p.Val244Ile (p.V244I) ( ENST00000338702.4, ENST00000542639.6, ENST00000686683.1, ENST00000688006.1, ENST00000689087.1, ENST00000693128.1 ) - Associated Disease
- Brunner Syndrome
- Source Database
- ClinVar
- Description
- NM_000240.4(MAOA):c.730G>A (p.Val244Ile) AND Brunner syndrome
- ClinVar Allele ID
- 424619
- ClinVar RefSeq Alternation Syntax
- NM_000240.4:c.730G>A
- ClinVar RefSeq Alternation Syntax
- NM_001270458.2:c.331G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2017-08-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000496099
- ClinVar Disease
- Brunner syndrome
- Observed Origin Sample
- maternal
Drugs