Annotation Detail
Information
- Associated Genes
- MTR
- Associated Variants
-
MTR c.*1488T>C
(
ENST00000674797.2,
ENST00000366577.10 )
MTR c.*1488T>C ( ENST00000366577.10, ENST00000674797.2 ) - Associated Disease
- Disorders of Intracellular Cobalamin Metabolism
- Source Database
- ClinVar
- Description
- NM_000254.3(MTR):c.*1488T>C AND Disorders of Intracellular Cobalamin Metabolism
- ClinVar Allele ID
- 279852
- ClinVar RefSeq Alternation Syntax
- NM_001291939.1:c.*1488T>C
- ClinVar RefSeq Alternation Syntax
- NM_000254.3:c.*1488T>C
- ClinVar RefSeq Alternation Syntax
- NM_001291940.2:c.*1488T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-01-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000331743
- ClinVar Disease
- Disorders of Intracellular Cobalamin Metabolism
- Observed Origin Sample
- germline
Drugs