Annotation Detail
Information
- Associated Genes
- CXCR4
- Associated Variants
-
CXCR4 p.Ile142= (p.I142=)
(
ENST00000241393.4,
ENST00000409817.1,
ENST00000466288.1,
ENST00000696136.1,
ENST00000696137.1,
ENST00000696152.1,
ENST00000696228.1 )
CXCR4 p.Ile142= (p.I142=) ( ENST00000241393.4, ENST00000409817.1, ENST00000466288.1, ENST00000696136.1, ENST00000696137.1, ENST00000696152.1, ENST00000696228.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_003467.3(CXCR4):c.414C>T (p.Ile138=) AND not provided
- ClinVar Allele ID
- 250163
- ClinVar RefSeq Alternation Syntax
- NM_003467.3:c.414C>T
- ClinVar RefSeq Alternation Syntax
- NM_001008540.2:c.426C>T
- ClinVar RefSeq Alternation Syntax
- NM_001348056.2:c.627C>T
- ClinVar RefSeq Alternation Syntax
- NM_001348059.2:c.513C>T
- ClinVar RefSeq Alternation Syntax
- NM_001348060.2:c.369C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2020-10-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001530628
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs