RGD:28886451 Rat Genome Database

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Variant: RGD:28886451 -  Homo sapiens

RGD ID: 28886451
RS ID: rs1877324101
ClinVar ID: CV859944
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HNF1A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 121,437,431
GRCh38 12 120,999,628
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000545.8:c.1768+1G>A
NM_001306179.2:c.1789+1G>A
LRG_522:g.25883G>A
NM_001406915.1:c.1576+1G>A
More... 		06/03/2022 splice donor variant pathogenic|likely pathogenic Mason type diabetes; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HNF1A
Accession:NM_001406915
Location:INTRON

Gene Symbol:HNF1A
Accession:NM_001306179
Location:INTRON

Gene Symbol:HNF1A
Accession:NM_000545
Location:INTRON

Gene Symbol:HNF1A
Accession:XM_024449168
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001091861 CLINVAR
  RCV002260132 CLINVAR
  RCV002327378 CLINVAR
dbSNP (RS) rs1877324101 CLINVAR
MedGen C0342276 CLINVAR
  C3661900 CLINVAR
  C3888631 CLINVAR
NCBI Gene HNF1A CLINVAR
OMIM 142410 CLINVAR
  606391 CLINVAR
SNOMED CT 28453007 CLINVAR