Annotation Detail
Information
- Associated Genes
- COASY
- Associated Variants
-
COASY p.Thr353= (p.T353=)
(
ENST00000421097.6,
ENST00000393818.3,
ENST00000590958.5 )
COASY p.Thr353= (p.T353=) ( ENST00000393818.3, ENST00000421097.6, ENST00000590958.5 ) - Associated Disease
- Pontocerebellar hypoplasia, type 12
- Source Database
- ClinVar
- Description
- NM_025233.7(COASY):c.972A>G (p.Thr324=) AND Pontocerebellar hypoplasia, type 12
- ClinVar Allele ID
- 378199
- ClinVar RefSeq Alternation Syntax
- NM_001042529.3:c.972A>G
- ClinVar RefSeq Alternation Syntax
- NM_025233.7:c.972A>G
- ClinVar RefSeq Alternation Syntax
- NM_001042532.4:c.1059A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001584117
- ClinVar Disease
- Pontocerebellar hypoplasia, type 12
- Observed Origin Sample
- germline
Drugs