Annotation Detail
Information
- Associated Genes
- CD320
- Associated Variants
-
CD320 p.Gln8Arg (p.Q8R)
(
ENST00000301458.10,
ENST00000537716.6 )
CD320 p.Gln8Arg (p.Q8R) ( ENST00000301458.10, ENST00000537716.6 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_016579.4(CD320):c.23A>G (p.Gln8Arg) AND not specified
- ClinVar Allele ID
- 140386
- ClinVar RefSeq Alternation Syntax
- NM_016579.4:c.23A>G
- ClinVar RefSeq Alternation Syntax
- NM_001165895.2:c.23A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2013-10-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000124166
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs