RGD:150338230 Rat Genome Database

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Variant: RGD:150338230 -  Homo sapiens

RGD ID: 150338230
RS ID: rs869320668
ClinVar ID: CV1173901
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GATA2  
Reference Nucleotide: C
Variant Nucleotide: T
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 Trait Synonyms
NM_001145661.2:c.1018-1G>A
NM_032638.5:c.1018-1G>A
NM_001145662.1:c.1018-43G>A
LRG_295:g.16243G>A
More... 		07/06/2021 intron variant likely pathogenic Emberger syndrome; GATA2 deficiency with susceptibility to MDS/AML; Lymphedema, primary, with myelodysplasia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GATA2
Accession:NM_001145661
Location:INTRON

Gene Symbol:GATA2
Accession:NM_032638
Location:INTRON

Gene Symbol:GATA2
Accession:NM_001145662
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:21670465   PMID:24077845   PMID:24227816   PMID:24345756   PMID:25359990   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001542152 CLINVAR
dbSNP (RS) rs869320668 CLINVAR
MedGen C3279664 CLINVAR
NCBI Gene GATA2 CLINVAR
OMIM 137295 CLINVAR
  614038 CLINVAR