Annotation Detail
Information
- Associated Genes
- CXCR4
- Associated Variants
-
CXCR4 p.Arg338Ter (p.R338*)
(
ENST00000241393.4,
ENST00000409817.1,
ENST00000466288.1,
ENST00000696136.1,
ENST00000696137.1,
ENST00000696152.1,
ENST00000696228.1 )
CXCR4 p.Arg338Ter (p.R338*) ( 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.1000C>T (p.Arg334Ter) AND not provided
- ClinVar Allele ID
- 29059
- ClinVar RefSeq Alternation Syntax
- NM_001348060.2:c.955C>T
- ClinVar RefSeq Alternation Syntax
- NM_001008540.2:c.1012C>T
- ClinVar RefSeq Alternation Syntax
- NM_001348056.2:c.1213C>T
- ClinVar RefSeq Alternation Syntax
- NM_003467.3:c.1000C>T
- ClinVar RefSeq Alternation Syntax
- NM_001348059.2:c.1099C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-04-05
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001509163
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs