RGD:12880629 Rat Genome Database

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Variant: RGD:12880629 -  Homo sapiens

RGD ID: 12880629
RS ID: rs746574040
ClinVar ID: CV396548
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GATA4  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 11,565,893
GRCh38 8 11,708,384
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008177.2:g.36466C>G
NC_000008.11:g.11708384C>G
NC_000008.10:g.11565893C>G
NM_002052.3:c.72C>G
More... 		10/13/2020 intron variant likely benign none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GATA4
Accession:NM_001374274
Location:5UTRS;INTRON

Gene Symbol:GATA4
Accession:NM_001374273
Location:5UTRS;INTRON

Gene Symbol:GATA4
Accession:NM_001308094
Location:5UTRS;INTRON

Gene Symbol:GATA4
Accession:NM_002052
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYQSLAMAANHGPPPGAYEAGGPGAFMHGAGAASSPVYVPTPRVPSSVLGLSYLQGGGAGSASGGASGGSSGGAASGAGP
GTQQGSPGWSQAGADGAAYTPPPVSPRFSFPGTTGSLAAAAAAAAAREAAAYSSGGGAAGAGLAGREQYGRAGFAGSYSS
PYPAYMADVGASWAAAAAASAGPFDSPVLHSLPGRANPAARHPNLDMFDDFSEGRECVNCGAMSTPLWRRDGTGHYLCNA
CGLYHKMNGINRPLIKPQRRLSASRRVGLSCANCQTTTTTLWRRNAEGEPVCNACGLYMKLHGVPRPLAMRKEGIQTRKR
KPKNLNKSKTPAAPSGSESLPPASGASSNSSNATTSSSEEMRPIKTEPGLSSHYGHSSSVSQTFSVSAMSGHGPSIHPVL
SALKLSPQGYASPVSQSPQTSSKQDSWNSLVLADSHGDIITA*

Gene Symbol:GATA4
Accession:NM_001308093
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYQSLAMAANHGPPPGAYEAGGPGAFMHGAGAASSPVYVPTPRVPSSVLGLSYLQGGGAGSASGGASGGSSGGAASGAGP
GTQQGSPGWSQAGADGAAYTPPPVSPRFSFPGTTGSLAAAAAAAAAREAAAYSSGGGAAGAGLAGREQYGRAGFAGSYSS
PYPAYMADVGASWAAAAAASAGPFDSPVLHSLPGRANPAARHPNLVDMFDDFSEGRECVNCGAMSTPLWRRDGTGHYLCN
ACGLYHKMNGINRPLIKPQRRLSASRRVGLSCANCQTTTTTLWRRNAEGEPVCNACGLYMKLHGVPRPLAMRKEGIQTRK
RKPKNLNKSKTPAAPSGSESLPPASGASSNSSNATTSSSEEMRPIKTEPGLSSHYGHSSSVSQTFSVSAMSGHGPSIHPV
LSALKLSPQGYASPVSQSPQTSSKQDSWNSLVLADSHGDIITA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000456364 CLINVAR
  RCV001584172 CLINVAR
  RCV002383847 CLINVAR
dbSNP (RS) rs746574040 CLINVAR
MedGen C3280781 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene GATA4 CLINVAR
OMIM 600576 CLINVAR
  614430 CLINVAR