Annotation Detail
Information
- Associated Genes
- MTR
- Associated Variants
-
MTR p.Val248Met (p.V248M)
(
ENST00000366577.10,
ENST00000535889.6,
ENST00000681177.1,
ENST00000681102.1,
ENST00000674797.2,
ENST00000679842.1 )
MTR p.Val248Met (p.V248M) ( ENST00000366577.10, ENST00000535889.6, ENST00000674797.2, ENST00000679842.1, ENST00000681102.1, ENST00000681177.1 ) - Associated Disease
- Methylcobalamin deficiency type cblG
- Source Database
- ClinVar
- Description
- NM_000254.3(MTR):c.742G>A (p.Val248Met) AND Methylcobalamin deficiency type cblG
- ClinVar Allele ID
- 280114
- ClinVar RefSeq Alternation Syntax
- NM_001291940.2:c.-367G>A
- ClinVar RefSeq Alternation Syntax
- NM_000254.3:c.742G>A
- ClinVar RefSeq Alternation Syntax
- NM_001291939.1:c.742G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000892103
- ClinVar Disease
- Methylcobalamin deficiency type cblG
- Observed Origin Sample
- germline
Drugs