Annotation Detail
Information
- Associated Genes
- ANKK1
- Associated Variants
-
ANKK1 p.Glu713Lys (p.E713K)
(
ENST00000303941.4 )
ANKK1 p.Glu713Lys (p.E713K) ( ENST00000303941.4 ) - Associated Disease
- ANKK1-related disorder
- Source Database
- ClinVar
- Description
- NM_178510.2(ANKK1):c.2137G>A (p.Glu713Lys) AND ANKK1-related disorder
- ClinVar Allele ID
- 17144
- ClinVar RefSeq Alternation Syntax
- NM_178510.2:c.2137G>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2021-07-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003974790
- ClinVar Disease
- ANKK1-related disorder
- Observed Origin Sample
- germline
Drugs