Annotation Detail
Information
- Associated Genes
- SLC16A11
- Associated Variants
-
SLC16A11 p.Asp103Gly (p.D103G)
(
ENST00000662352.3,
ENST00000574600.3,
ENST00000673828.2 )
SLC16A11 p.Asp103Gly (p.D103G) ( ENST00000574600.3, ENST00000662352.3, ENST00000673828.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001370549.1(SLC16A11):c.308A>G (p.Asp103Gly) AND not provided
- ClinVar Allele ID
- 1173051
- ClinVar RefSeq Alternation Syntax
- NM_153357.3:c.308A>G
- ClinVar RefSeq Alternation Syntax
- NM_001370553.1:c.308A>G
- ClinVar RefSeq Alternation Syntax
- NM_001370549.1:c.308A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2020-02-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001540485
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs