RGD:13212324 Rat Genome Database

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Variant: RGD:13212324 -  Homo sapiens

RGD ID: 13212324
RS ID: rs3735819
ClinVar ID: CV426523
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GATA4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 11,606,312
GRCh38 8 11,748,803
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_008177.2:g.76885T>C
NC_000008.11:g.11748803T>C
NC_000008.10:g.11606312T>C
NM_001308094.2:c.-5-113T>C
More... 		01/06/2020 intron variant pathogenic|benign|conflicting interpretations of pathogenicity 5-8/1000 live births AllHighlyPenetrant; 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:INTRON

Gene Symbol:GATA4
Accession:NM_001308093
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:27426723   PMID:33116287  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000498657 CLINVAR
  RCV001579893 CLINVAR
  RCV001702664 CLINVAR
dbSNP (RS) rs3735819 CLINVAR
MedGen C0152021 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene GATA4 CLINVAR
OMIM 600576 CLINVAR
SNOMED CT 13213009 CLINVAR