RGD:13213050 Rat Genome Database

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Variant: RGD:13213050 -  Homo sapiens

RGD ID: 13213050
RS ID: rs1425061772
ClinVar ID: CV428757
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GATA4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 11,566,312
GRCh38 8 11,708,803
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002052.5:c.491C>T
NP_001295022.1:p.Ala164Val
NM_001374273.1:c.-3+4499C>T
NM_001374274.1:c.-3+789C>T
More... 		06/09/2017 intron variant uncertain significance AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GATA4
Accession:NM_001374273
Location:5UTRS;INTRON

Gene Symbol:GATA4
Accession:NM_001374274
Location:5UTRS;INTRON

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

Gene Symbol:GATA4
Accession:NM_001308093
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 164
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYQSLAMAANHGPPPGAYEAGGPGAFMHGAGAASSPVYVPTPRVPSSVLGLSYLQGGGAGSASGGASGGSSGGAASGAGP
GTQQGSPGWSQAGADGAAYTPPPVSPRFSFPGTTGSLAAAAAAAAAREAAAYSSGGGAAGAGLAGREQYGRAGFAGSYSS
PYPVYMADVGASWAAAAAASAGPFDSPVLHSLPGRANPAARHPNLVDMFDDFSEGRECVNCGAMSTPLWRRDGTGHYLCN
ACGLYHKMNGINRPLIKPQRRLSASRRVGLSCANCQTTTTTLWRRNAEGEPVCNACGLYMKLHGVPRPLAMRKEGIQTRK
RKPKNLNKSKTPAAPSGSESLPPASGASSNSSNATTSSSEEMRPIKTEPGLSSHYGHSSSVSQTFSVSAMSGHGPSIHPV
LSALKLSPQGYASPVSQSPQTSSKQDSWNSLVLADSHGDIITA*

Gene Symbol:GATA4
Accession:NM_002052
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 164
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYQSLAMAANHGPPPGAYEAGGPGAFMHGAGAASSPVYVPTPRVPSSVLGLSYLQGGGAGSASGGASGGSSGGAASGAGP
GTQQGSPGWSQAGADGAAYTPPPVSPRFSFPGTTGSLAAAAAAAAAREAAAYSSGGGAAGAGLAGREQYGRAGFAGSYSS
PYPVYMADVGASWAAAAAASAGPFDSPVLHSLPGRANPAARHPNLDMFDDFSEGRECVNCGAMSTPLWRRDGTGHYLCNA
CGLYHKMNGINRPLIKPQRRLSASRRVGLSCANCQTTTTTLWRRNAEGEPVCNACGLYMKLHGVPRPLAMRKEGIQTRKR
KPKNLNKSKTPAAPSGSESLPPASGASSNSSNATTSSSEEMRPIKTEPGLSSHYGHSSSVSQTFSVSAMSGHGPSIHPVL
SALKLSPQGYASPVSQSPQTSSKQDSWNSLVLADSHGDIITA*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000499553 CLINVAR
  RCV001857102 CLINVAR
dbSNP (RS) rs1425061772 CLINVAR
MedGen C3280781 CLINVAR
  CN169374 CLINVAR
NCBI Gene GATA4 CLINVAR
OMIM 600576 CLINVAR
  614430 CLINVAR