RGD:11592093 Rat Genome Database

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Variant: RGD:11592093 -  Homo sapiens

RGD ID: 11592093
RS ID: rs10934857
ClinVar ID: CV292391
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GATA2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 128,199,662
GRCh38 3 128,480,819
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.*200C>T
LRG_295:g.17369C>T
NG_029334.1:g.17369C>T
NC_000003.12:g.128480819G>A
More... 		09/14/2018 3 prime utr variant benign|likely benign childhood <1 / 1 000 000 Emberger syndrome; Lymphedema, primary, with myelodysplasia; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GATA2
Accession:NM_001145662
Location:3UTRS;EXON

Gene Symbol:GATA2
Accession:NM_001145661
Location:3UTRS;EXON

Gene Symbol:GATA2
Accession:NM_032638
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000335359 CLINVAR
  RCV001691975 CLINVAR
dbSNP (RS) rs10934857 CLINVAR
MedGen C3279664 CLINVAR
  C3661900 CLINVAR
NCBI Gene GATA2 CLINVAR
OMIM 137295 CLINVAR
  614038 CLINVAR