RGD:11618283 Rat Genome Database

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Variant: RGD:11618283 -  Homo sapiens

RGD ID: 11618283
RS ID: rs60658163
ClinVar ID: CV326523
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ5  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 128,761,338
GRCh38 11 128,891,443
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_333t1:c.-289G>C
LRG_333:g.5026G>C
NG_023406.2:g.5026G>C
NC_000011.10:g.128891443G>C
More... 		06/14/2016 5 prime utr variant uncertain significance Familial hyperaldosteronism type 3; Familial long QT syndrome; FH III; Romano-Ward syndrome; Ventricular fibrillation with prolonged QT interval
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNJ5
Accession:NM_001354169
Location:5UTRS;EXON

Gene Symbol:KCNJ5
Accession:NM_000890
Location:5UTRS;EXON

Gene Symbol:KCNJ5
Accession:XM_011542810
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000312199 CLINVAR
  RCV000366828 CLINVAR
dbSNP (RS) rs60658163 CLINVAR
MedGen C1141890 CLINVAR
  C3838758 CLINVAR
NCBI Gene KCNJ5 CLINVAR
OMIM 192500 CLINVAR
  600734 CLINVAR
  613677 CLINVAR
SNOMED CT 442917000 CLINVAR