RGD:14725987 Rat Genome Database

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Variant: RGD:14725987 -  Homo sapiens

RGD ID: 14725987
RS ID: rs2269842
ClinVar ID: CV668961
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HNF1B  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 36,059,246
GRCh38 17 37,699,240
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001304286.2:c.1261+5677T>G
NM_001165923.4:c.1457-46T>G
NM_000458.4:c.1535-46T>G
NG_013019.2:g.50867T>G
More... 		06/14/2018 intron variant benign Mason type diabetes; none provided
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:HNF1B
Accession:XM_011525163
Location:INTRON

Gene Symbol:HNF1B
Accession:XM_011525161
Location:INTRON

Gene Symbol:HNF1B
Accession:XM_011525162
Location:INTRON

Gene Symbol:HNF1B
Accession:XM_011525164
Location:INTRON

Gene Symbol:HNF1B
Accession:NM_001304286
Location:INTRON

Gene Symbol:HNF1B
Accession:XM_047436630
Location:INTRON

Gene Symbol:HNF1B
Accession:XM_047436631
Location:INTRON

Gene Symbol:HNF1B
Accession:NM_001165923
Location:INTRON

Gene Symbol:HNF1B
Accession:NM_001411100
Location:INTRON

Gene Symbol:HNF1B
Accession:NM_000458
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:19639018   PMID:24897035   PMID:25536396   PMID:25741167   PMID:26340261   PMID:27615128   PMID:28215227   PMID:33434175  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000833676 CLINVAR
  RCV002465794 CLINVAR
dbSNP (RS) rs2269842 CLINVAR
MedGen C0342276 CLINVAR
  C3661900 CLINVAR
NCBI Gene HNF1B CLINVAR
OMIM 189907 CLINVAR
  606391 CLINVAR
SNOMED CT 28453007 CLINVAR