RGD:28902323 Rat Genome Database

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Variant: RGD:28902323 -  Homo sapiens

RGD ID: 28902323
RS ID: rs866881260
ClinVar ID: CV867562
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ5  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 128,761,324
GRCh38 11 128,891,429
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_333t1:c.-303C>G
NM_000890.5:c.-303C>G
NM_001354169.2:c.-392C>G
LRG_333:g.5012C>G
More...
05/16/2021 5 prime utr variant benign|uncertain significance Familial hyperaldosteronism type 3; FH III; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNJ5
Accession:NM_000890
Location:5UTRS;EXON

Gene Symbol:KCNJ5
Accession:NM_001354169
Location:5UTRS;EXON

Gene Symbol:KCNJ5
Accession:XM_011542810
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001104615 CLINVAR
  RCV001673013 CLINVAR
dbSNP (RS) rs866881260 CLINVAR
MedGen C3838758 CLINVAR
  CN517202 CLINVAR
NCBI Gene KCNJ5 CLINVAR
OMIM 600734 CLINVAR
  613677 CLINVAR