RGD:11646730 Rat Genome Database

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Variant: RGD:11646730 -  Homo sapiens

RGD ID: 11646730
RS ID: rs886053345
ClinVar ID: CV329669
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ2  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 68,175,816
GRCh38 17 70,179,675
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.*3352T>A
LRG_328:g.15141T>A
NG_008798.1:g.15141T>A
NC_000017.11:g.70179675T>A
More...
01/12/2018 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 RCV000272313 CLINVAR
  RCV000325001 CLINVAR
  RCV000382044 CLINVAR
dbSNP (RS) rs886053345 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