RGD:11597096 Rat Genome Database

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Variant: RGD:11597096 -  Homo sapiens

RGD ID: 11597096
RS ID: rs559062253
ClinVar ID: CV292499
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GATA2  GATA2-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 128,211,729
GRCh38 3 128,492,886
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_295t2:c.-46+13C>T
LRG_295:g.5302C>T
NG_029334.1:g.5302C>T
NC_000003.12:g.128492886G>A
More...
01/12/2018 intron variant likely benign|uncertain significance childhood <1 / 1 000 000 Emberger syndrome; Lymphedema, primary, with myelodysplasia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GATA2
Accession:NM_032638
Location:5UTRS;INTRON

Gene Symbol:GATA2
Accession:NM_001145661
Location:INTRON

Gene Symbol:GATA2
Accession:NM_001145662
Location:INTRON

Gene Symbol:GATA2-AS1
Accession:NR_125398
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000390200 CLINVAR
dbSNP (RS) rs559062253 CLINVAR
MedGen C3279664 CLINVAR
NCBI Gene GATA2 CLINVAR
  GATA2-AS1 CLINVAR
OMIM 137295 CLINVAR
  614038 CLINVAR