RGD:13504302 Rat Genome Database

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Variant: RGD:13504302 -  Homo sapiens

RGD ID: 13504302
RS ID: rs370979090
ClinVar ID: CV441508
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HNF1A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 121,416,567
GRCh38 12 120,978,764
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000545.6:c.-5G>A
NC_000012.11:g.121416567G>A
LRG_522:g.5019G>A
NM_000545.5:c.-5G>A
More... 		11/14/2019 5 prime utr variant uncertain significance AllHighlyPenetrant; Mason type diabetes
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HNF1A
Accession:XM_024449168
Location:5UTRS;EXON

Gene Symbol:HNF1A
Accession:NM_000545
Location:5UTRS;EXON

Gene Symbol:HNF1A
Accession:NM_001306179
Location:5UTRS;EXON

Gene Symbol:HNF1A
Accession:NM_001406915
Location:5UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:31517624   PMID:32395877   PMID:35328643   PMID:35673428  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000518027 CLINVAR
  RCV002329218 CLINVAR
dbSNP (RS) rs370979090 CLINVAR
MedGen C0342276 CLINVAR
  CN169374 CLINVAR
NCBI Gene HNF1A CLINVAR
OMIM 142410 CLINVAR
  606391 CLINVAR
SNOMED CT 28453007 CLINVAR