Annotation Detail
Information
- Associated Genes
- GATA2
- Associated Variants
-
GATA2 c.*482C>T
(
ENST00000341105.7,
ENST00000430265.6,
ENST00000487848.6,
ENST00000696466.1 )
GATA2 c.*482C>T ( ENST00000341105.7, ENST00000430265.6, ENST00000487848.6, ENST00000696466.1 ) - Associated Disease
- Deafness-lymphedema-leukemia syndrome Monocytopenia with susceptibility to infections
- Source Database
- ClinVar
- Description
- NM_032638.5(GATA2):c.*482C>T AND multiple conditions
- ClinVar Allele ID
- 292386
- ClinVar RefSeq Alternation Syntax
- NM_001145662.1:c.*482C>T
- ClinVar RefSeq Alternation Syntax
- NM_032638.5:c.*482C>T
- ClinVar RefSeq Alternation Syntax
- NM_001145661.2:c.*482C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2022-02-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002523240
- ClinVar Disease
- Monocytopenia with susceptibility to infections
- ClinVar Disease
- Deafness-lymphedema-leukemia syndrome
- Observed Origin Sample
- germline
Drugs