Annotation Detail
Information
- Associated Genes
- CXCR4
- Associated Variants
-
CXCR4 p.Ser342Ter (p.S342*)
(
ENST00000241393.4,
ENST00000409817.1,
ENST00000466288.1,
ENST00000696136.1,
ENST00000696137.1,
ENST00000696152.1,
ENST00000696228.1 )
CXCR4 p.Ser342Ter (p.S342*) ( 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.1013C>G (p.Ser338Ter) AND not provided
- ClinVar Allele ID
- 29062
- ClinVar RefSeq Alternation Syntax
- NM_001348059.2:c.1112C>G
- ClinVar RefSeq Alternation Syntax
- NM_001348060.2:c.968C>G
- ClinVar RefSeq Alternation Syntax
- NM_001008540.2:c.1025C>G
- ClinVar RefSeq Alternation Syntax
- NM_001348056.2:c.1226C>G
- ClinVar RefSeq Alternation Syntax
- NM_003467.3:c.1013C>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-12-23
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001568992
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs