RGD:11628606 Rat Genome Database

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Variant: RGD:11628606 -  Homo sapiens

RGD ID: 11628606
RS ID: rs753675648
ClinVar ID: CV351002
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HNF4A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 43,059,411
GRCh38 20 44,430,771
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_483t2:c.*1106G>A
LRG_483:g.79971G>A
NG_009818.1:g.79971G>A
NC_000020.11:g.44430771G>A
More...
01/12/2018 3 prime utr variant 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HNF4A
Accession:NM_175914
Location:3UTRS;EXON

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

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

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

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

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

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

Gene Symbol:HNF4A
Accession:XM_047440138
Location:3UTRS;EXON

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

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

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

Gene Symbol:HNF4A
Accession:NM_001030004
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_178850
Location:INTRON

Gene Symbol:HNF4A
Accession:NM_001287184
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000305498 CLINVAR
  RCV000392322 CLINVAR
  RCV003150183 CLINVAR
dbSNP (RS) rs753675648 CLINVAR
MedGen C0342276 CLINVAR
  C1852093 CLINVAR
  C3888018 CLINVAR
NCBI Gene HNF4A CLINVAR
OMIM 125850 CLINVAR
  600281 CLINVAR
  606391 CLINVAR
SNOMED CT 28453007 CLINVAR