RGD:15100221 Rat Genome Database

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Variant: RGD:15100221 -  Homo sapiens

RGD ID: 15100221
RS ID: rs916833024
ClinVar ID: CV689730
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GATA2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 128,202,178
GRCh38 3 128,483,335
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_032638.5:c.1017+525C>T
NG_029334.1:g.14853C>T
NC_000003.12:g.128483335G>A
NC_000003.11:g.128202178G>A
More... 		01/08/2021 intron variant likely benign|uncertain significance AllHighlyPenetrant; COMBINED IMMUNODEFICIENCY WITH SUSCEPTIBILITY TO MYCOBACTERIAL, VIRAL, AND FUNGAL INFECTIONS; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency; Emberger syndrome; GATA2 DEFICIENCY; 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_032638
Location:INTRON

Gene Symbol:GATA2
Accession:NM_001145661
Location:INTRON

Gene Symbol:GATA2
Accession:NM_001145662
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000870029 CLINVAR
  RCV001816990 CLINVAR
dbSNP (RS) rs916833024 CLINVAR
MedGen C3279664 CLINVAR
  CN169374 CLINVAR
NCBI Gene GATA2 CLINVAR
OMIM 137295 CLINVAR
  614038 CLINVAR
  614172 CLINVAR