RGD:11626515 Rat Genome Database

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Variant: RGD:11626515 -  Homo sapiens

RGD ID: 11626515
RS ID: rs6130615
ClinVar ID: CV349992
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HNF4A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 43,059,437
GRCh38 20 44,430,797
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_483t2:c.*1132C>T
LRG_483:g.79997C>T
NG_009818.1:g.79997C>T
NC_000020.11:g.44430797C>T
More... 		04/28/2020 3 prime utr variant benign|likely benign Congenital hyperinsulinism; Diabetes mellitus MODY type 1; HNF4A-Related Maturity-Onset Diabetes of the Young Type 1; 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:XM_047440138
Location:3UTRS;EXON

Gene Symbol:HNF4A
Accession:NM_178849
Location:3UTRS;EXON

Gene Symbol:HNF4A
Accession:NM_001030003
Location:3UTRS;EXON

Gene Symbol:HNF4A
Accession:XM_047440137
Location:3UTRS;EXON

Gene Symbol:HNF4A
Accession:NM_175914
Location:3UTRS;EXON

Gene Symbol:HNF4A
Accession:NM_001287183
Location:3UTRS;EXON

Gene Symbol:HNF4A
Accession:XM_047440135
Location:3UTRS;EXON

Gene Symbol:HNF4A
Accession:NM_001287182
Location:3UTRS;EXON

Gene Symbol:HNF4A
Accession:XM_047440136
Location:3UTRS;EXON

Gene Symbol:HNF4A
Accession:NM_001258355
Location:3UTRS;EXON

Gene Symbol:HNF4A
Accession:NM_000457
Location:3UTRS;EXON

Gene Symbol:HNF4A
Accession:NM_001287184
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_001030004
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_178850
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000265512 CLINVAR
  RCV000360104 CLINVAR
  RCV001660708 CLINVAR
dbSNP (RS) rs6130615 CLINVAR
MedGen C1852093 CLINVAR
  C3661900 CLINVAR
  C3888018 CLINVAR
NCBI Gene HNF4A CLINVAR
OMIM 125850 CLINVAR
  600281 CLINVAR