Annotation Detail
Information
- Associated Genes
- ATIC
- Associated Variants
-
ATIC p.Thr116Ser (p.T116S)
(
ENST00000236959.14,
ENST00000435675.5 )
ATIC p.Thr116Ser (p.T116S) ( ENST00000236959.14, ENST00000435675.5 ) - Associated Disease
- AICA-ribosiduria
- Source Database
- ClinVar
- Description
- NM_004044.7(ATIC):c.347C>G (p.Thr116Ser) AND AICA-ribosiduria
- Observed Origin Sample
- unknown
- ClinVar Allele ID
- 790193
- ClinVar RefSeq Alternation Syntax
- NM_004044.7:c.347C>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-14
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000987027
- ClinVar Disease
- AICA-ribosiduria
- Observed Origin Sample
- germline
Drugs