Annotation Detail
Information
- Associated Genes
- GLE1 LOC101929270
- Associated Variants
-
GLE1 c.*782C>G
(
ENST00000309971.9,
ENST00000683748.1,
ENST00000684139.1,
ENST00000684314.1,
ENST00000684331.1,
ENST00000684646.1 )
GLE1 c.*782C>G ( ENST00000309971.9, ENST00000683748.1, ENST00000684139.1, ENST00000684314.1, ENST00000684331.1, ENST00000684646.1 ) - Associated Disease
- Lethal arthrogryposis-anterior horn cell disease syndrome
- Source Database
- ClinVar
- Description
- NM_001003722.2(GLE1):c.*782C>G AND Lethal arthrogryposis-anterior horn cell disease syndrome
- ClinVar Allele ID
- 317087
- ClinVar RefSeq Alternation Syntax
- NM_001003722.2:c.*782C>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-01-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000317456
- ClinVar Disease
- Lethal arthrogryposis-anterior horn cell disease syndrome
- Observed Origin Sample
- germline
Drugs