RGD:14707280 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:14707280 -  Homo sapiens

RGD ID: 14707280
RS ID: rs540578824
ClinVar ID: CV636550
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GATA4  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 11,566,309
GRCh38 8 11,708,800
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001308094.2:c.-6+8022C>G
NG_008177.2:g.36882C>G
NC_000008.11:g.11708800C>G
NM_001374274.1:c.-3+786C>G
More...
07/24/2018 intron variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GATA4
Accession:NM_001308094
Location:5UTRS;INTRON

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

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

Gene Symbol:GATA4
Accession:NM_002052
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 163
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYQSLAMAANHGPPPGAYEAGGPGAFMHGAGAASSPVYVPTPRVPSSVLGLSYLQGGGAGSASGGASGGSSGGAASGAGP
GTQQGSPGWSQAGADGAAYTPPPVSPRFSFPGTTGSLAAAAAAAAAREAAAYSSGGGAAGAGLAGREQYGRAGFAGSYSS
PYRAYMADVGASWAAAAAASAGPFDSPVLHSLPGRANPAARHPNLDMFDDFSEGRECVNCGAMSTPLWRRDGTGHYLCNA
CGLYHKMNGINRPLIKPQRRLSASRRVGLSCANCQTTTTTLWRRNAEGEPVCNACGLYMKLHGVPRPLAMRKEGIQTRKR
KPKNLNKSKTPAAPSGSESLPPASGASSNSSNATTSSSEEMRPIKTEPGLSSHYGHSSSVSQTFSVSAMSGHGPSIHPVL
SALKLSPQGYASPVSQSPQTSSKQDSWNSLVLADSHGDIITA*

Gene Symbol:GATA4
Accession:NM_001308093
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 163
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYQSLAMAANHGPPPGAYEAGGPGAFMHGAGAASSPVYVPTPRVPSSVLGLSYLQGGGAGSASGGASGGSSGGAASGAGP
GTQQGSPGWSQAGADGAAYTPPPVSPRFSFPGTTGSLAAAAAAAAAREAAAYSSGGGAAGAGLAGREQYGRAGFAGSYSS
PYRAYMADVGASWAAAAAASAGPFDSPVLHSLPGRANPAARHPNLVDMFDDFSEGRECVNCGAMSTPLWRRDGTGHYLCN
ACGLYHKMNGINRPLIKPQRRLSASRRVGLSCANCQTTTTTLWRRNAEGEPVCNACGLYMKLHGVPRPLAMRKEGIQTRK
RKPKNLNKSKTPAAPSGSESLPPASGASSNSSNATTSSSEEMRPIKTEPGLSSHYGHSSSVSQTFSVSAMSGHGPSIHPV
LSALKLSPQGYASPVSQSPQTSSKQDSWNSLVLADSHGDIITA*

Variant Samples
Additional References at PubMed
PMID:2087424   PMID:20874241   PMID:28263493   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000792278 CLINVAR
  RCV001560292 CLINVAR
dbSNP (RS) rs540578824 CLINVAR
MedGen C3280781 CLINVAR
  C3661900 CLINVAR
  CN517202 CLINVAR
NCBI Gene GATA4 CLINVAR
OMIM 600576 CLINVAR
  614430 CLINVAR