RGD:11660677 Rat Genome Database

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Variant: RGD:11660677 -  Homo sapiens

RGD ID: 11660677
RS ID: rs886057923
ClinVar ID: CV292357
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GATA2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 128,198,718
GRCh38 3 128,479,875
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.*1144G>A
LRG_295:g.18313G>A
NG_029334.1:g.18313G>A
NC_000003.12:g.128479875C>T
More... 		01/12/2018 3 prime utr variant 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:3UTRS;EXON

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

Gene Symbol:GATA2
Accession:NM_001145662
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000369477 CLINVAR
dbSNP (RS) rs886057923 CLINVAR
MedGen C3279664 CLINVAR
NCBI Gene GATA2 CLINVAR
OMIM 137295 CLINVAR
  614038 CLINVAR