Annotation Detail
Information
- Associated Genes
- TRAPPC2 OFD1
- Associated Variants
-
TRAPPC2 c.195+5G>A
(
ENST00000359680.9,
ENST00000380579.6,
ENST00000458511.7,
ENST00000518847.2,
ENST00000519885.5,
ENST00000683569.1,
ENST00000683983.1 )
TRAPPC2 c.195+5G>A ( ENST00000359680.9, ENST00000380579.6, ENST00000458511.7, ENST00000518847.2, ENST00000519885.5, ENST00000683569.1, ENST00000683983.1 ) - Associated Disease
- Inborn genetic diseases
- Source Database
- ClinVar
- Description
- NM_001011658.4(TRAPPC2):c.93+5G>A AND Inborn genetic diseases
- ClinVar Allele ID
- 26551
- ClinVar RefSeq Alternation Syntax
- NM_014563.6:c.93+5G>A
- ClinVar RefSeq Alternation Syntax
- NM_001128835.3:c.195+5G>A
- ClinVar RefSeq Alternation Syntax
- NM_001011658.4:c.93+5G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-04-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002512980
- ClinVar Disease
- Inborn genetic diseases
- Observed Origin Sample
- germline
Drugs