RGD:8567872 Rat Genome Database

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Variant: RGD:8567872 -  Homo sapiens

RGD ID: 8567872
RS ID: rs869320668
ClinVar ID: CV38671
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GATA2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 128,200,788
GRCh38 3 128,481,945
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_295t1:c.1018-1G>T
NM_001145662.1:c.1018-43G>T
LRG_295:g.16243G>T
NG_029334.1:g.16243G>T
More... 		10/19/2023 intron variant pathogenic|likely pathogenic adulthood <1 / 1 000 000 COMBINED IMMUNODEFICIENCY WITH SUSCEPTIBILITY TO MYCOBACTERIAL, VIRAL, AND FUNGAL INFECTIONS; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency; Emberger syndrome; GATA2 DEFICIENCY; GATA2 deficiency with susceptibility to MDS/AML; IMMUNODEFICIENCY 21; Lymphedema, primary, with myelodysplasia; MONOCYTOPENIA AND MYCOBACTERIAL INFECTION SYNDROME; Monocytopenia with susceptibility to infections; MONOCYTOPENIA WITH SUSCEPTIBILITY TO MYCOBACTERIAL, FUNGAL, AND PAPILLOMAVIRUS INFECTIONS AND MYELODYSPLASIA
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GATA2
Accession:NM_001145662
Location:INTRON

Gene Symbol:GATA2
Accession:NM_032638
Location:INTRON

Gene Symbol:GATA2
Accession:NM_001145661
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:21242295   PMID:21670465   PMID:21765025   PMID:21810969   PMID:23223431   PMID:24345756   PMID:25741868   PMID:26022708   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000022568 CLINVAR
  RCV001542153 CLINVAR
  RCV003764625 CLINVAR
dbSNP (RS) rs869320668 CLINVAR
MedGen C3279664 CLINVAR
  C3280030 CLINVAR
NCBI Gene GATA2 CLINVAR
OMIM 137295 CLINVAR
  614038 CLINVAR
  614172 CLINVAR
OMIM Allele 137295.0008 CLINVAR