Annotation Detail
Information
- Associated Genes
- MTRR
- Associated Variants
-
MTRR c.*541G>A
(
ENST00000264668.6,
ENST00000440940.7 )
MTRR c.*541G>A ( ENST00000264668.6, ENST00000440940.7 ) - Associated Disease
- Disorders of Intracellular Cobalamin Metabolism
- Source Database
- ClinVar
- Description
- NM_002454.3(MTRR):c.*541G>A AND Disorders of Intracellular Cobalamin Metabolism
- ClinVar Allele ID
- 298206
- ClinVar RefSeq Alternation Syntax
- NM_001364441.2:c.*541G>A
- ClinVar RefSeq Alternation Syntax
- NR_157173.2:n.2728G>A
- ClinVar RefSeq Alternation Syntax
- NR_157169.2:n.2551G>A
- ClinVar RefSeq Alternation Syntax
- NM_001364442.2:c.*541G>A
- ClinVar RefSeq Alternation Syntax
- NR_157175.2:n.2883G>A
- ClinVar RefSeq Alternation Syntax
- NM_002454.3:c.*541G>A
- ClinVar RefSeq Alternation Syntax
- NR_157168.2:n.2691G>A
- ClinVar RefSeq Alternation Syntax
- NR_134481.2:n.2642G>A
- ClinVar RefSeq Alternation Syntax
- NR_157177.2:n.2726G>A
- ClinVar RefSeq Alternation Syntax
- NM_024010.4:c.*541G>A
- ClinVar RefSeq Alternation Syntax
- NR_134480.2:n.2717G>A
- ClinVar RefSeq Alternation Syntax
- NR_157171.2:n.2574G>A
- ClinVar RefSeq Alternation Syntax
- NR_134482.2:n.2577G>A
- ClinVar RefSeq Alternation Syntax
- NR_157172.2:n.2488G>A
- ClinVar RefSeq Alternation Syntax
- NR_157176.2:n.3046G>A
- ClinVar RefSeq Alternation Syntax
- NR_157170.2:n.2717G>A
- ClinVar RefSeq Alternation Syntax
- NR_157174.2:n.2729G>A
- ClinVar RefSeq Alternation Syntax
- NR_157178.2:n.2754G>A
- ClinVar RefSeq Alternation Syntax
- NM_001364440.2:c.*541G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-01-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000389294
- ClinVar Disease
- Disorders of Intracellular Cobalamin Metabolism
- Observed Origin Sample
- germline
Drugs