RGD:13809907 Rat Genome Database

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Variant: RGD:13809907 -  Homo sapiens

RGD ID: 13809907
RS ID: rs113495257
ClinVar ID: CV577858
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HNF4A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 43,047,038
GRCh38 20 44,418,398
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001258355.2:c.628-27G>A
NM_001030004.3:c.583-27G>A
NM_001287182.2:c.574-27G>A
LRG_483t2:c.649-27G>A
More... 		09/04/2018 intron variant benign|likely benign Mason type diabetes; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HNF4A
Accession:NM_001287183
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_001258355
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_001030003
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_178849
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_175914
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_001287182
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_001287184
Location:INTRON

Gene Symbol:HNF4A
Accession:XM_047440137
Location:INTRON

Gene Symbol:HNF4A
Accession:XM_047440135
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_000457
Location:INTRON

Gene Symbol:HNF4A
Accession:XM_047440138
Location:INTRON

Gene Symbol:HNF4A
Accession:XM_047440136
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_001030004
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_178850
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:17563455   PMID:18268044   PMID:26467025   PMID:32583173   PMID:35052457   PMID:35118593  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000711961 CLINVAR
  RCV003148851 CLINVAR
dbSNP (RS) rs113495257 CLINVAR
MedGen C0342276 CLINVAR
  C3661900 CLINVAR
NCBI Gene HNF4A CLINVAR
OMIM 600281 CLINVAR
  606391 CLINVAR
SNOMED CT 28453007 CLINVAR