Annotation Detail
Information
- Associated Genes
- ACY1 ABHD14A-ACY1
- Associated Variants
-
ACY1 c.921+21A>T, ABHD14A-ACY1 c.1224+21A>T
(
ENST00000404366.7,
ENST00000476351.5,
ENST00000476854.5,
ENST00000494103.5,
ENST00000635797.1,
ENST00000636358.2,
ENST00000463937.1 )
ACY1 c.921+21A>T, ABHD14A-ACY1 c.1224+21A>T ( ENST00000404366.7, ENST00000476351.5, ENST00000476854.5, ENST00000494103.5, ENST00000635797.1, ENST00000636358.2, ENST00000463937.1 ) - Associated Disease
- Aminoacylase 1 deficiency
- Source Database
- ClinVar
- Description
- NM_000666.3(ACY1):c.921+21A>T AND Aminoacylase 1 deficiency
- ClinVar Allele ID
- 1016298
- ClinVar RefSeq Alternation Syntax
- NM_001198897.2:c.726+21A>T
- ClinVar RefSeq Alternation Syntax
- NM_000666.3:c.921+21A>T
- ClinVar RefSeq Alternation Syntax
- NM_001198896.2:c.705+21A>T
- ClinVar RefSeq Alternation Syntax
- NM_001198895.2:c.921+21A>T
- ClinVar RefSeq Alternation Syntax
- NM_001198898.2:c.816+21A>T
- ClinVar RefSeq Alternation Syntax
- NM_001316331.2:c.1191+21A>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2019-11-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001331354
- ClinVar Disease
- Aminoacylase 1 deficiency
- Observed Origin Sample
- unknown
Drugs