RGD:15174315 Rat Genome Database

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Variant: RGD:15174315 -  Homo sapiens

RGD ID: 15174315
RS ID: rs1576745252
ClinVar ID: CV789280
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GATA2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 128,200,753
GRCh38 3 128,481,910
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001145662.1:c.1018-8A>G
NM_001145661.2:c.1052A>G
NM_032638.5:c.1052A>G
NG_029334.1:g.16278A>G
More... 		07/06/2021 intron variant likely pathogenic|uncertain significance Emberger syndrome; GATA2 deficiency with susceptibility to MDS/AML; Lymphedema, primary, with myelodysplasia; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GATA2
Accession:NM_001145661
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 351
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVAPEQPRWMAHPAVLNAQHPDSHHPGLAHNYMEPAQLLPPDEVDVFFNHLDSQGNPYYANPAHARARVSYSPAHARLT
GGQMCRPHLLHSPGLPWLDGGKAALSAAAAHHHNPWTVSPFSKTPLHPSAAGGPGGPLSVYPGAGGGSGGGSGSSVASLT
PTAAHSGSHLFGFPPTPPKEVSPDPSTTGAASPASSSAGGSAARGEDKDGVKYQVSLTESMKMESGSPLRPGLATMGTQP
ATHHPIPTYPSYVPAAAHDYSSGLFHPGGFLGGPASSFTPKQRSKARSCSEGRECVNCGATATPLWRRDGTGHYLCNACG
LYHKMNGQNRPLIKPKRRLSAARRAGTCCASCQTTTTTLWRRNANGDPVCNACGLYYKLHNVNRPLTMKKEGIQTRNRKM
SNKSKKSKKGAECFEELSKCMQEKSSPFSAAALAGHMAPVGHLPPFSHSGHILPTPTPIHPSSSLSFGHPHPSSMVTAMG
*

Gene Symbol:GATA2
Accession:NM_032638
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 351
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVAPEQPRWMAHPAVLNAQHPDSHHPGLAHNYMEPAQLLPPDEVDVFFNHLDSQGNPYYANPAHARARVSYSPAHARLT
GGQMCRPHLLHSPGLPWLDGGKAALSAAAAHHHNPWTVSPFSKTPLHPSAAGGPGGPLSVYPGAGGGSGGGSGSSVASLT
PTAAHSGSHLFGFPPTPPKEVSPDPSTTGAASPASSSAGGSAARGEDKDGVKYQVSLTESMKMESGSPLRPGLATMGTQP
ATHHPIPTYPSYVPAAAHDYSSGLFHPGGFLGGPASSFTPKQRSKARSCSEGRECVNCGATATPLWRRDGTGHYLCNACG
LYHKMNGQNRPLIKPKRRLSAARRAGTCCASCQTTTTTLWRRNANGDPVCNACGLYYKLHNVNRPLTMKKEGIQTRNRKM
SNKSKKSKKGAECFEELSKCMQEKSSPFSAAALAGHMAPVGHLPPFSHSGHILPTPTPIHPSSSLSFGHPHPSSMVTAMG
*

Gene Symbol:GATA2
Accession:NM_001145662
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:32088370  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000984819 CLINVAR
  RCV001542204 CLINVAR
dbSNP (RS) rs1576745252 CLINVAR
MedGen C3279664 CLINVAR
  C3661900 CLINVAR
NCBI Gene GATA2 CLINVAR
OMIM 137295 CLINVAR
  614038 CLINVAR