RGD:8659727 Rat Genome Database

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Variant: RGD:8659727 -  Homo sapiens

RGD ID: 8659727
RS ID: rs745975
ClinVar ID: CV134685
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HNF4A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 43,034,693
GRCh38 20 44,406,053
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009818.1:g.55253C>T
NC_000020.11:g.44406053C>T
NC_000020.10:g.43034693C>T
LRG_483t2:c.116-5C>T
More... 		12/03/2020 intron|intron variant benign|likely benign|conflicting interpretations of pathogenicity Abnormality of urine glucose concentration; AllHighlyPenetrant; Mason type diabetes; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Glycosuria  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:HNF4A
Accession:NM_000457
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_178850
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_001287182
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_001030003
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_001287184
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_001287183
Location:INTRON

Gene Symbol:HNF4A
Accession:XM_047440138
Location:INTRON

Gene Symbol:HNF4A
Accession:XM_047440135
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_001030004
Location:INTRON

Gene Symbol:HNF4A
Accession:XM_047440136
Location:INTRON

Gene Symbol:HNF4A
Accession:XM_047440137
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_178849
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_175914
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_001258355
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9267996   PMID:9313765   PMID:9449683   PMID:10983627   PMID:15793260   PMID:16883527   PMID:16946562   PMID:17573900   PMID:18811724   PMID:19406499   PMID:24033266   PMID:25741868  
PMID:26467025   PMID:27846149   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000117237 CLINVAR
  RCV000268875 CLINVAR
  RCV000361090 CLINVAR
  RCV000710147 CLINVAR
  RCV002226672 CLINVAR
dbSNP (RS) rs745975 CLINVAR
MedGen C0017979 CLINVAR
  C0342276 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
  CN239341 CLINVAR
NCBI Gene HNF4A CLINVAR
OMIM 600281 CLINVAR
  606391 CLINVAR
SNOMED CT 28453007 CLINVAR