Annotation Detail
Information
- Associated Genes
- MTR
- Associated Variants
-
MTR p.Asp919Gly (p.D919G)
(
ENST00000366577.10,
ENST00000535889.6,
ENST00000681177.1,
ENST00000681102.1,
ENST00000679842.1,
ENST00000674797.2 )
MTR p.Asp919Gly (p.D919G) ( ENST00000366577.10, ENST00000535889.6, ENST00000674797.2, ENST00000679842.1, ENST00000681102.1, ENST00000681177.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) AND not specified
- ClinVar Allele ID
- 141992
- ClinVar RefSeq Alternation Syntax
- NM_000254.3:c.2756A>G
- ClinVar RefSeq Alternation Syntax
- NM_001291939.1:c.2603A>G
- ClinVar RefSeq Alternation Syntax
- NM_001291940.2:c.1535A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2013-09-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000126868
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs