Annotation Detail
Information
- Associated Genes
- SLC30A8
- Associated Variants
-
SLC30A8 p.Arg325Trp (p.R325W)
(
ENST00000427715.2,
ENST00000456015.7,
ENST00000519688.5,
ENST00000521243.5 )
SLC30A8 p.Arg325Trp (p.R325W) ( ENST00000456015.7, ENST00000519688.5, ENST00000521243.5, ENST00000427715.2 ) - Associated Disease
- SLC30A8-related disorder
- Source Database
- ClinVar
- Description
- NM_173851.3(SLC30A8):c.973C>T (p.Arg325Trp) AND SLC30A8-related disorder
- ClinVar Allele ID
- 16039
- ClinVar RefSeq Alternation Syntax
- NM_001172813.2:c.826C>T
- ClinVar RefSeq Alternation Syntax
- NM_173851.3:c.973C>T
- ClinVar RefSeq Alternation Syntax
- NM_001172815.3:c.826C>T
- ClinVar RefSeq Alternation Syntax
- NM_001172811.2:c.826C>T
- ClinVar RefSeq Alternation Syntax
- NM_001172814.2:c.826C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003974786
- ClinVar Disease
- SLC30A8-related disorder
- Observed Origin Sample
- germline
Drugs