RGD:11620907 Rat Genome Database

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Variant: RGD:11620907 -  Homo sapiens

RGD ID: 11620907
RS ID: rs574000398
ClinVar ID: CV328255
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HNF1B  LOC105371755  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 36,046,437
GRCh38 17 37,686,434
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_013019.2:g.63673A>G
NC_000017.11:g.37686434T>C
NC_000017.10:g.36046437T>C
NM_000458.2:c.*938A>G
More... 		01/12/2018 3 prime utr variant benign|likely benign|uncertain significance adolescent 1-9 / 1 000 000 Familial hypoplastic, glomerulocystic kidney; FJHN atypical; Glomerulocystic kidney disease, hypoplastic type; Hyperuricemic nephropathy, familial juvenile, atypical; Mason type diabetes; Maturity-onset diabetes of the young, type 5; MODY type 5
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HNF1B
Accession:XM_011525164
Location:3UTRS;EXON

Gene Symbol:HNF1B
Accession:NM_001304286
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:HNF1B
Accession:NM_000458
Location:3UTRS;EXON

Gene Symbol:HNF1B
Accession:XM_011525161
Location:3UTRS;EXON

Gene Symbol:HNF1B
Accession:NM_001411100
Location:3UTRS;EXON

Gene Symbol:HNF1B
Accession:NM_001165923
Location:3UTRS;EXON

Gene Symbol:HNF1B
Accession:XM_047436630
Location:3UTRS;EXON

Gene Symbol:LOC105371755
Accession:XR_002958135
Location:EXON;NON-CODING

Gene Symbol:HNF1B
Accession:XM_011525163
Location:INTRON

Gene Symbol:HNF1B
Accession:XM_047436631
Location:INTRON

Gene Symbol:HNF1B
Accession:XM_011525162
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 RCV000342129 CLINVAR
  RCV002464170 CLINVAR
dbSNP (RS) rs574000398 CLINVAR
MedGen C0342276 CLINVAR
  C0431693 CLINVAR
NCBI Gene HNF1B CLINVAR
OMIM 137920 CLINVAR
  189907 CLINVAR
  606391 CLINVAR
SNOMED CT 253864004 CLINVAR
  28453007 CLINVAR