RGD:28908988 Rat Genome Database

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Variant: RGD:28908988 -  Homo sapiens

RGD ID: 28908988
RS ID: rs1423304633
ClinVar ID: CV867576
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 128,786,910
GRCh38 11 128,917,015
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_333t1:c.*284G>A
NM_000890.5:c.*284G>A
NM_001354169.2:c.*284G>A
LRG_333:g.30598G>A
More... 		01/13/2018 3 prime utr variant uncertain significance Familial hyperaldosteronism type 3; FH III
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNJ5
Accession:NM_000890
Location:3UTRS;EXON

Gene Symbol:KCNJ5
Accession:XM_011542810
Location:3UTRS;EXON

Gene Symbol:KCNJ5
Accession:NM_001354169
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001108121 CLINVAR
dbSNP (RS) rs1423304633 CLINVAR
MedGen C3838758 CLINVAR
NCBI Gene KCNJ5 CLINVAR
OMIM 600734 CLINVAR
  613677 CLINVAR