Annotation Detail
Information
- Associated Genes
- CSF3R
- Associated Variants
-
CSF3R p.Arg343Trp (p.R343W)
(
ENST00000373103.5,
ENST00000373106.6,
ENST00000464465.7,
ENST00000699090.1,
ENST00000373104.5 )
CSF3R p.Arg343Trp (p.R343W) ( ENST00000373103.5, ENST00000373104.5, ENST00000373106.6, ENST00000464465.7, ENST00000699090.1 ) - Associated Disease
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- Source Database
- ClinVar
- Description
- NM_000760.4(CSF3R):c.1027C>T (p.Arg343Trp) AND Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- ClinVar Allele ID
- 515848
- ClinVar RefSeq Alternation Syntax
- NM_172313.3:c.1027C>T
- ClinVar RefSeq Alternation Syntax
- NM_000760.4:c.1027C>T
- ClinVar RefSeq Alternation Syntax
- NM_156039.3:c.1027C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-10-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000653391
- ClinVar Disease
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- Observed Origin Sample
- germline
Drugs