Annotation Detail
Information
- Associated Genes
- GLE1
- Associated Variants
-
GLE1 p.Ile243Val (p.I243V)
(
ENST00000309971.9,
ENST00000372770.4,
ENST00000683748.1,
ENST00000684139.1,
ENST00000684314.1,
ENST00000684331.1,
ENST00000684646.1 )
GLE1 p.Ile243Val (p.I243V) ( ENST00000309971.9, ENST00000372770.4, ENST00000683748.1, ENST00000684139.1, ENST00000684314.1, ENST00000684331.1, ENST00000684646.1 ) - Associated Disease
- lethal congenital contracture syndrome 1
- Source Database
- ClinVar
- Description
- NM_001003722.2(GLE1):c.727A>G (p.Ile243Val) AND Lethal congenital contracture syndrome 1
- ClinVar Allele ID
- 195270
- ClinVar RefSeq Alternation Syntax
- NM_001003722.2:c.727A>G
- ClinVar RefSeq Alternation Syntax
- NM_001499.2:c.727A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-10
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000334555
- ClinVar Disease
- Lethal congenital contracture syndrome 1
- Observed Origin Sample
- germline
Drugs