RGD:11645831 Rat Genome Database

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Variant: RGD:11645831 -  Homo sapiens

RGD ID: 11645831
RS ID: rs886053325
ClinVar ID: CV345635
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 68,172,588
GRCh38 17 70,176,447
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
LRG_328t1:c.*124G>A
LRG_328:g.11913G>A
NG_008798.1:g.11913G>A
NC_000017.11:g.70176447G>A
More... 		01/13/2018 3 prime utr variant uncertain significance childhood 1-9 / 1 000 000 Andersen cardiodysrhythmic periodic paralysis; Andersen Syndrome; Long QT syndrome 7; Periodic paralysis, potassium-sensitive cardiodysrhythmic type; Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNJ2
Accession:NM_000891
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000267673 CLINVAR
  RCV000303675 CLINVAR
  RCV000360000 CLINVAR
dbSNP (RS) rs886053325 CLINVAR
MedGen C1563715 CLINVAR
  C1865018 CLINVAR
  C3151431 CLINVAR
NCBI Gene KCNJ2 CLINVAR
OMIM 170390 CLINVAR
  600681 CLINVAR
  609622 CLINVAR
  613980 CLINVAR
SNOMED CT 422348008 CLINVAR