RGD:15174304 Rat Genome Database

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Variant: RGD:15174304 -  Homo sapiens

RGD ID: 15174304
RS ID: rs1313081073
ClinVar ID: CV789281
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GATA2  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 128,200,778
GRCh38 3 128,481,935
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.1018-33A>T
NM_001145661.2:c.1027A>T
NM_032638.5:c.1027A>T
NG_029334.1:g.16253A>T
More...
06/21/2019 intron variant pathogenic|likely pathogenic COMBINED IMMUNODEFICIENCY WITH SUSCEPTIBILITY TO MYCOBACTERIAL, VIRAL, AND FUNGAL INFECTIONS; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency; Emberger syndrome; GATA2 DEFICIENCY; IMMUNODEFICIENCY 21; Lymphedema, primary, with myelodysplasia; MONOCYTOPENIA AND MYCOBACTERIAL INFECTION SYNDROME; Monocytopenia with susceptibility to infections; MONOCYTOPENIA WITH SUSCEPTIBILITY TO MYCOBACTERIAL, FUNGAL, AND PAPILLOMAVIRUS INFECTIONS AND MYELODYSPLASIA; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GATA2
Accession:NM_032638
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 343
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVAPEQPRWMAHPAVLNAQHPDSHHPGLAHNYMEPAQLLPPDEVDVFFNHLDSQGNPYYANPAHARARVSYSPAHARLT
GGQMCRPHLLHSPGLPWLDGGKAALSAAAAHHHNPWTVSPFSKTPLHPSAAGGPGGPLSVYPGAGGGSGGGSGSSVASLT
PTAAHSGSHLFGFPPTPPKEVSPDPSTTGAASPASSSAGGSAARGEDKDGVKYQVSLTESMKMESGSPLRPGLATMGTQP
ATHHPIPTYPSYVPAAAHDYSSGLFHPGGFLGGPASSFTPKQRSKARSCSEGRECVNCGATATPLWRRDGTGHYLCNACG
LYHKMNGQNRPLIKPKRRLSAA*RAGTCCANCQTTTTTLWRRNANGDPVCNACGLYYKLHNVNRPLTMKKEGIQTRNRKM
SNKSKKSKKGAECFEELSKCMQEKSSPFSAAALAGHMAPVGHLPPFSHSGHILPTPTPIHPSSSLSFGHPHPSSMVTAMG
*

Gene Symbol:GATA2
Accession:NM_001145661
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 343
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVAPEQPRWMAHPAVLNAQHPDSHHPGLAHNYMEPAQLLPPDEVDVFFNHLDSQGNPYYANPAHARARVSYSPAHARLT
GGQMCRPHLLHSPGLPWLDGGKAALSAAAAHHHNPWTVSPFSKTPLHPSAAGGPGGPLSVYPGAGGGSGGGSGSSVASLT
PTAAHSGSHLFGFPPTPPKEVSPDPSTTGAASPASSSAGGSAARGEDKDGVKYQVSLTESMKMESGSPLRPGLATMGTQP
ATHHPIPTYPSYVPAAAHDYSSGLFHPGGFLGGPASSFTPKQRSKARSCSEGRECVNCGATATPLWRRDGTGHYLCNACG
LYHKMNGQNRPLIKPKRRLSAA*RAGTCCANCQTTTTTLWRRNANGDPVCNACGLYYKLHNVNRPLTMKKEGIQTRNRKM
SNKSKKSKKGAECFEELSKCMQEKSSPFSAAALAGHMAPVGHLPPFSHSGHILPTPTPIHPSSSLSFGHPHPSSMVTAMG
*

Gene Symbol:GATA2
Accession:NM_001145662
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:21670465   PMID:23223431   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000984817 CLINVAR
  RCV001062521 CLINVAR
dbSNP (RS) rs1313081073 CLINVAR
MedGen C3279664 CLINVAR
  C3661900 CLINVAR
NCBI Gene GATA2 CLINVAR
OMIM 137295 CLINVAR
  614038 CLINVAR
  614172 CLINVAR