Annotation Detail
Information
- Associated Genes
- DYNC2LI1 ABCG5
- Associated Variants
-
ABCG5 p.Gln604Glu (p.Q604E)
(
ENST00000405322.8 )
ABCG5 p.Gln604Glu (p.Q604E) ( ENST00000405322.8 ) - Associated Disease
- Sitosterolemia 1
- Source Database
- ClinVar
- Description
- NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu) AND Sitosterolemia 1
- ClinVar Allele ID
- 286312
- ClinVar RefSeq Alternation Syntax
- NM_001348912.2:c.*15+2738G>C
- ClinVar RefSeq Alternation Syntax
- NM_022436.3:c.1810C>G
- ClinVar RefSeq Alternation Syntax
- NM_001348913.2:c.*15+2738G>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-03-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001094717
- ClinVar Disease
- Sitosterolemia 1
- Observed Origin Sample
- germline
Drugs