RGD:26912682 Rat Genome Database

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Variant: RGD:26912682 -  Homo sapiens

RGD ID: 26912682
RS ID: rs1340713003
ClinVar ID: CV850108
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GATA1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 48,652,353
GRCh38 X 48,793,946
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_559t1:c.1024G>A
NM_002049.4:c.1024G>A
LRG_559:g.12373G>A
NG_008846.2:g.12373G>A
More... 		05/22/2019 missense variant uncertain significance Aase syndrome; Anemia congenital erythroid hypoplastic; Aregenerative anemia chronic congenital; Blackfan Diamond syndrome; Congenital hypoplastic anemia; Erythrogenesis imperfecta; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis; GATA1-Related X-Linked Cytopenia; Red cell aplasia, pure hereditary
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GATA1
Accession:NM_002049
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 342
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFPGLGSLGTSEPLPQFVDPALVSSTPESGVFFPSGPEGLDAAASSTAPSTATAAAAALAYYRDAEAYRHSPVFQVYPL
LNCMEGIPGGSPYAGWAYGKTGLYPASTVCPTREDSPPQAVEDLDGKGSTSFLETLKTERLSPDLLTLGPALPSSLPVPN
SAYGGPDFSSTFFSPTGSPLNSAAYSSPKLRGTLPLPPCEARECVNCGATATPLWRRDRTGHYLCNACGLYHKMNGQNRP
LIRPKKRLIVSKRAGTQCTNCQTTTTTLWRRNASGDPVCNACGLYYKLHQVNRPLTMRKDGIQTRNRKASGKGKKKRGSS
LGGTGAAEGPAGGFMVVAGGSSSGNCGEVASGLTLGPPGTAHLYQGLGPVVLSGPVSHLMPFPGPLLGSPTGSFPTGPMP
PTTSTTVVAPLSS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001053750 CLINVAR
dbSNP (RS) rs1340713003 CLINVAR
MedGen C1260899 CLINVAR
NCBI Gene GATA1 CLINVAR
OMIM 105650 CLINVAR
  305371 CLINVAR
SNOMED CT 88854002 CLINVAR