Annotation Detail
Information
- Associated Genes
- GLO1
- Associated Variants
-
GLO1 p.Glu111Ala (p.E111A)
(
ENST00000373365.5 )
GLO1 p.Glu111Ala (p.E111A) ( ENST00000373365.5 ) - Associated Disease
- Autism, susceptibility to, 1
- Source Database
- ClinVar
- Description
- NM_006708.3(GLO1):c.332A>C (p.Glu111Ala) AND Autism, susceptibility to, 1
- ClinVar Allele ID
- 31076
- ClinVar RefSeq Alternation Syntax
- NM_006708.3:c.332A>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2010-12-30
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000017412
- ClinVar Disease
- Autism, susceptibility to, 1
- Observed Origin Sample
- germline
- Pubmed
- 18721844
- Pubmed
- 15386471
- Pubmed
- 17722011
Drugs