Annotation Detail
Information
- Associated Genes
- SLC1A1
- Associated Variants
-
SLC1A1 p.Ile298Thr (p.I298T)
(
ENST00000262352.8 )
SLC1A1 p.Ile298Thr (p.I298T) ( ENST00000262352.8 ) - Associated Disease
- dicarboxylic aminoaciduria
- Source Database
- ClinVar
- Description
- NM_004170.6(SLC1A1):c.893T>C (p.Ile298Thr) AND Dicarboxylic aminoaciduria
- ClinVar Allele ID
- 318869
- ClinVar RefSeq Alternation Syntax
- NM_004170.6:c.893T>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-01-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000279329
- ClinVar Disease
- Dicarboxylic aminoaciduria
- Observed Origin Sample
- germline
Drugs