RGD:28902714 Rat Genome Database

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Variant: RGD:28902714 -  Homo sapiens

RGD ID: 28902714
RS ID: rs372596032
ClinVar ID: CV887460
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HNF4A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 43,043,314
GRCh38 20 44,414,674
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_483t2:c.648+12C>T
NM_001287182.2:c.573+12C>T
NM_001287184.2:c.573+12C>T
NM_001030003.3:c.582+12C>T
More... 		01/13/2018 intron variant benign|likely benign|uncertain significance Congenital hyperinsulinism; Diabetes mellitus MODY type 1; HNF4A-Related Maturity-Onset Diabetes of the Young Type 1; Mason type diabetes; MILD JUVENILE DIABETES MELLITUS; MODY HNF4A related; MODY type 1; MODY, type I; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HNF4A
Accession:NM_001030004
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_001287182
Location:INTRON

Gene Symbol:HNF4A
Accession:XM_047440138
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_001030003
Location:INTRON

Gene Symbol:HNF4A
Accession:XM_047440135
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_178849
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_175914
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_178850
Location:INTRON

Gene Symbol:HNF4A
Accession:XM_047440137
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_001287184
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_000457
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_001287183
Location:INTRON

Gene Symbol:HNF4A
Accession:XM_047440136
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_001258355
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:17563455   PMID:18268044   PMID:28492532   PMID:32583173   PMID:35052457   PMID:35118593  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001143698 CLINVAR
  RCV001143699 CLINVAR
  RCV003148937 CLINVAR
  RCV003769689 CLINVAR
dbSNP (RS) rs372596032 CLINVAR
MedGen C0342276 CLINVAR
  C1852093 CLINVAR
  C3661900 CLINVAR
  C3888018 CLINVAR
NCBI Gene HNF4A CLINVAR
OMIM 125850 CLINVAR
  600281 CLINVAR
  606391 CLINVAR
SNOMED CT 28453007 CLINVAR