RGD:26889368 Rat Genome Database

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Variant: RGD:26889368 -  Homo sapiens

RGD ID: 26889368
RS ID: rs759067821
ClinVar ID: CV834062
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GATA4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 11,615,803
GRCh38 8 11,758,294
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.1148C>T
NM_001308093.3:c.1151C>T
NM_001374274.1:c.404C>T
NM_001308094.2:c.530C>T
More... 		12/27/2019 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GATA4
Accession:NM_001374273
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFDDFSEGRECVNCGAMSTPLWRRDGTGHYLCNACGLYHKMNGINRPLIKPQRRLSASRRVGLSCANCQTTTTTLWRRNA
EGEPVCNACGLYMKLHGVPRPLAMRKEGIQTRKRKPKNLNKSKTPAAPSGSESLPPASGASSNSSNATTSSSEEMRPIKT
EPGLSSHYGHSSSVSQMFSVSAMSGHGPSIHPVLSALKLSPQGYASPVSQSPQTSSKQDSWNSLVLADSHGDIITA*

Gene Symbol:GATA4
Accession:NM_001308094
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFDDFSEGRECVNCGAMSTPLWRRDGTGHYLCNACGLYHKMNGINRPLIKPQRRLSASRRVGLSCANCQTTTTTLWRRNA
EGEPVCNACGLYMKLHGVPRPLAMRKEGIQTRKRKPKNLNKSKTPAAPSGSESLPPASGASSNSSNATTSSSEEMRPIKT
EPGLSSHYGHSSSVSQMFSVSAMSGHGPSIHPVLSALKLSPQGYASPVSQSPQTSSKQDSWNSLVLADSHGDIITA*

Gene Symbol:GATA4
Accession:NM_001308093
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 384
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYQSLAMAANHGPPPGAYEAGGPGAFMHGAGAASSPVYVPTPRVPSSVLGLSYLQGGGAGSASGGASGGSSGGAASGAGP
GTQQGSPGWSQAGADGAAYTPPPVSPRFSFPGTTGSLAAAAAAAAAREAAAYSSGGGAAGAGLAGREQYGRAGFAGSYSS
PYPAYMADVGASWAAAAAASAGPFDSPVLHSLPGRANPAARHPNLVDMFDDFSEGRECVNCGAMSTPLWRRDGTGHYLCN
ACGLYHKMNGINRPLIKPQRRLSASRRVGLSCANCQTTTTTLWRRNAEGEPVCNACGLYMKLHGVPRPLAMRKEGIQTRK
RKPKNLNKSKTPAAPSGSESLPPASGASSNSSNATTSSSEEMRPIKTEPGLSSHYGHSSSVSQMFSVSAMSGHGPSIHPV
LSALKLSPQGYASPVSQSPQTSSKQDSWNSLVLADSHGDIITA*

Gene Symbol:GATA4
Accession:NM_001374274
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFDDFSEGRECVNCGAMSTPLWRRDGTGHYLCNACGLYHKMNGINRPLIKPQRRLVPRPLAMRKEGIQTRKRKPKNLNKS
KTPAAPSGSESLPPASGASSNSSNATTSSSEEMRPIKTEPGLSSHYGHSSSVSQMFSVSAMSGHGPSIHPVLSALKLSPQ
GYASPVSQSPQTSSKQDSWNSLVLADSHGDIITA*

Gene Symbol:GATA4
Accession:NM_002052
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 383
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYQSLAMAANHGPPPGAYEAGGPGAFMHGAGAASSPVYVPTPRVPSSVLGLSYLQGGGAGSASGGASGGSSGGAASGAGP
GTQQGSPGWSQAGADGAAYTPPPVSPRFSFPGTTGSLAAAAAAAAAREAAAYSSGGGAAGAGLAGREQYGRAGFAGSYSS
PYPAYMADVGASWAAAAAASAGPFDSPVLHSLPGRANPAARHPNLDMFDDFSEGRECVNCGAMSTPLWRRDGTGHYLCNA
CGLYHKMNGINRPLIKPQRRLSASRRVGLSCANCQTTTTTLWRRNAEGEPVCNACGLYMKLHGVPRPLAMRKEGIQTRKR
KPKNLNKSKTPAAPSGSESLPPASGASSNSSNATTSSSEEMRPIKTEPGLSSHYGHSSSVSQMFSVSAMSGHGPSIHPVL
SALKLSPQGYASPVSQSPQTSSKQDSWNSLVLADSHGDIITA*
Variant Samples
Additional References at PubMed
PMID:28492532   PMID:31322791  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001067454 CLINVAR
  RCV001561735 CLINVAR
dbSNP (RS) rs759067821 CLINVAR
MedGen C3280781 CLINVAR
  C3661900 CLINVAR
NCBI Gene GATA4 CLINVAR
OMIM 600576 CLINVAR
  614430 CLINVAR