Annotation Detail
Information
- Associated Genes
- CXCR4
- Associated Variants
-
CXCR4 p.Ser343CysfsTer4 (p.S343Cfs*4)
(
ENST00000241393.4,
ENST00000409817.1,
ENST00000466288.1,
ENST00000696136.1,
ENST00000696137.1,
ENST00000696152.1,
ENST00000696228.1 )
CXCR4 p.Ser343CysfsTer4 (p.S343Cfs*4) ( ENST00000241393.4, ENST00000409817.1, ENST00000466288.1, ENST00000696136.1, ENST00000696137.1, ENST00000696152.1, ENST00000696228.1 ) - Associated Disease
- Warts, hypogammaglobulinemia, infections, and myelokathexis
- Source Database
- ClinVar
- Description
- NM_003467.3(CXCR4):c.1016_1017del (p.Ser339fs) AND Warts, hypogammaglobulinemia, infections, and myelokathexis
- ClinVar Allele ID
- 29060
- ClinVar RefSeq Alternation Syntax
- NM_001348056.2:c.1229_1230del
- ClinVar RefSeq Alternation Syntax
- NM_001008540.2:c.1028_1029del
- ClinVar RefSeq Alternation Syntax
- NM_001348059.2:c.1115_1116del
- ClinVar RefSeq Alternation Syntax
- NM_001348060.2:c.971_972del
- ClinVar RefSeq Alternation Syntax
- NM_003467.3:c.1016_1017del
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2019-03-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015065
- ClinVar Disease
- Warts, hypogammaglobulinemia, infections, and myelokathexis
- Observed Origin Sample
- germline
Drugs