RGD:155679472 Rat Genome Database

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Variant: RGD:155679472 -  Homo sapiens

RGD ID: 155679472
ClinVar ID: CV1806958
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HNF4A  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 43,047,064
GRCh38 20 44,418,424
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000457.6:c.649-1G>C
NM_178849.3:c.649-1G>C
NM_178850.3:c.649-1G>C
LRG_483:g.67624G>C
More... 		03/25/2018 splice acceptor variant likely pathogenic Mason type diabetes
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_178849
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_001258355
Location:INTRON

Gene Symbol:HNF4A
Accession:XM_047440137
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_001030004
Location:INTRON

Gene Symbol:HNF4A
Accession:XM_047440136
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_001287182
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_175914
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_000457
Location:INTRON

Gene Symbol:HNF4A
Accession:XM_047440135
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_001030003
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_178850
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_001287184
Location:INTRON

Gene Symbol:HNF4A
Accession:XM_047440138
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002353246 CLINVAR
MedGen C0342276 CLINVAR
NCBI Gene HNF4A CLINVAR
OMIM 600281 CLINVAR
  606391 CLINVAR
SNOMED CT 28453007 CLINVAR