rs115099192 Rat Genome Database

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Variant: rs115099192 -  Homo sapiens

RGD ID: 8568112
RS ID: rs115099192
ClinVar ID: CV39058
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GATA4  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 11,615,875
GRCh38 8 11,758,366
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000008.11:g.11758366C>A
NC_000008.10:g.11615875C>A
NP_002043.2:p.Pro407Gln
NG_008177.2:g.86448C>A
More... 		03/29/2024 missense|missense variant pathogenic|benign|likely benign|uncertain significance antenatal|childhood|neonatal/infancy 1-5 / 10 000|1-9 / 100 000|>1 / 1000 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, WITH OR WITHOUT ADRENAL FAILURE; 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, NR5A1-RELATED; AllHighlyPenetrant; Atrioventricular septal defect 4; DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED; Fallot tetralogy; Microcephaly (disease); none provided; NR5A1-Related 46,XY CGD; NR5A1-related 46,XY complete gonadal dysgenesis; SEX REVERSAL, XY, WITH OR WITHOUT ADRENAL FAILURE; Ventricular septal defect 1
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GATA4
Accession:NM_001374274
Location:EXON
Amino Acid Prediction: P to Q (nonsynonymous)
Amino Acid Position: 159
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFDDFSEGRECVNCGAMSTPLWRRDGTGHYLCNACGLYHKMNGINRPLIKPQRRLVPRPLAMRKEGIQTRKRKPKNLNKS
KTPAAPSGSESLPPASGASSNSSNATTSSSEEMRPIKTEPGLSSHYGHSSSVSQTFSVSAMSGHGPSIHPVLSALKLSQQ
GYASPVSQSPQTSSKQDSWNSLVLADSHGDIITA*

Gene Symbol:GATA4
Accession:NM_001308094
Location:EXON
Amino Acid Prediction: P to Q (nonsynonymous)
Amino Acid Position: 201
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFDDFSEGRECVNCGAMSTPLWRRDGTGHYLCNACGLYHKMNGINRPLIKPQRRLSASRRVGLSCANCQTTTTTLWRRNA
EGEPVCNACGLYMKLHGVPRPLAMRKEGIQTRKRKPKNLNKSKTPAAPSGSESLPPASGASSNSSNATTSSSEEMRPIKT
EPGLSSHYGHSSSVSQTFSVSAMSGHGPSIHPVLSALKLSQQGYASPVSQSPQTSSKQDSWNSLVLADSHGDIITA*

Gene Symbol:GATA4
Accession:NM_001374273
Location:EXON
Amino Acid Prediction: P to Q (nonsynonymous)
Amino Acid Position: 201
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFDDFSEGRECVNCGAMSTPLWRRDGTGHYLCNACGLYHKMNGINRPLIKPQRRLSASRRVGLSCANCQTTTTTLWRRNA
EGEPVCNACGLYMKLHGVPRPLAMRKEGIQTRKRKPKNLNKSKTPAAPSGSESLPPASGASSNSSNATTSSSEEMRPIKT
EPGLSSHYGHSSSVSQTFSVSAMSGHGPSIHPVLSALKLSQQGYASPVSQSPQTSSKQDSWNSLVLADSHGDIITA*

Gene Symbol:GATA4
Accession:NM_001308093
Location:EXON
Amino Acid Prediction: P to Q (nonsynonymous)
Amino Acid Position: 408
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYQSLAMAANHGPPPGAYEAGGPGAFMHGAGAASSPVYVPTPRVPSSVLGLSYLQGGGAGSASGGASGGSSGGAASGAGP
GTQQGSPGWSQAGADGAAYTPPPVSPRFSFPGTTGSLAAAAAAAAAREAAAYSSGGGAAGAGLAGREQYGRAGFAGSYSS
PYPAYMADVGASWAAAAAASAGPFDSPVLHSLPGRANPAARHPNLVDMFDDFSEGRECVNCGAMSTPLWRRDGTGHYLCN
ACGLYHKMNGINRPLIKPQRRLSASRRVGLSCANCQTTTTTLWRRNAEGEPVCNACGLYMKLHGVPRPLAMRKEGIQTRK
RKPKNLNKSKTPAAPSGSESLPPASGASSNSSNATTSSSEEMRPIKTEPGLSSHYGHSSSVSQTFSVSAMSGHGPSIHPV
LSALKLSQQGYASPVSQSPQTSSKQDSWNSLVLADSHGDIITA*

Gene Symbol:GATA4
Accession:NM_002052
Location:EXON
Amino Acid Prediction: P to Q (nonsynonymous)
Amino Acid Position: 407
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYQSLAMAANHGPPPGAYEAGGPGAFMHGAGAASSPVYVPTPRVPSSVLGLSYLQGGGAGSASGGASGGSSGGAASGAGP
GTQQGSPGWSQAGADGAAYTPPPVSPRFSFPGTTGSLAAAAAAAAAREAAAYSSGGGAAGAGLAGREQYGRAGFAGSYSS
PYPAYMADVGASWAAAAAASAGPFDSPVLHSLPGRANPAARHPNLDMFDDFSEGRECVNCGAMSTPLWRRDGTGHYLCNA
CGLYHKMNGINRPLIKPQRRLSASRRVGLSCANCQTTTTTLWRRNAEGEPVCNACGLYMKLHGVPRPLAMRKEGIQTRKR
KPKNLNKSKTPAAPSGSESLPPASGASSNSSNATTSSSEEMRPIKTEPGLSSHYGHSSSVSQTFSVSAMSGHGPSIHPVL
SALKLSQQGYASPVSQSPQTSSKQDSWNSLVLADSHGDIITA*
Variant Samples
Additional References at PubMed
PMID:18672102   PMID:19302747   PMID:19678963   PMID:21110066   PMID:21519287   PMID:24033266   PMID:25741868   PMID:26490186   PMID:26997702   PMID:28492532   PMID:32992319  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000023008 CLINVAR
  RCV000030949 CLINVAR
  RCV000490358 CLINVAR
  RCV000526826 CLINVAR
  RCV001007695 CLINVAR
  RCV001195378 CLINVAR
  RCV001252768 CLINVAR
  RCV001555802 CLINVAR
  RCV002272027 CLINVAR
dbSNP (RS) rs115099192 CLINVAR
MedGen C0039685 CLINVAR
  C1842778 CLINVAR
  C3280777 CLINVAR
  C3280781 CLINVAR
  C3489793 CLINVAR
  C3661900 CLINVAR
  C3809858 CLINVAR
  C4551563 CLINVAR
  CN169374 CLINVAR
NCBI Gene GATA4 CLINVAR
OMIM 187500 CLINVAR
  600576 CLINVAR
  607941 CLINVAR
  612965 CLINVAR
  614429 CLINVAR
  614430 CLINVAR
  615542 CLINVAR
OMIM Allele 600576.0011 CLINVAR
  600576.0013 CLINVAR
SNOMED CT 86299006 CLINVAR