RGD:10044664 Rat Genome Database

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Variant: RGD:10044664 -  Homo sapiens

RGD ID: 10044664
RS ID: rs202067116
ClinVar ID: CV188662
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 68,172,153
GRCh38 17 70,176,012
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.973C>T
LRG_328:g.11478C>T
NG_008798.1:g.11478C>T
NC_000017.11:g.70176012C>T
More...
09/27/2022 missense variant benign|uncertain significance childhood 1-9 / 1 000 000 Andersen cardiodysrhythmic periodic paralysis; Andersen Syndrome; Long QT syndrome 7; none provided; Periodic paralysis, potassium-sensitive cardiodysrhythmic type; Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features; Short QT syndrome type 3
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:KCNJ2
Accession:NM_000891
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 325
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSVRTNRYSIVSSEEDGMKLATMAVANGFGNGKSKVHTRQQCRSRFVKKDGHCNVQFINVGEKGQRYLADIFTTCVDIR
WRWMLVIFCLAFVLSWLFFGCVFWLIALLHGDLDASKEGKACVSEVNSFTAAFLFSIETQTTIGYGFRCVTDECPIAVFM
VVFQSIVGCIIDAFIIGAVMAKMAKPKKRNETLVFSHNAVIAMRDGKLCLMWRVGNLRKSHLVEAHVRAQLLKSRITSEG
EYIPLDQIDINVGFDSGIDRIFLVSPITIVHEIDEDSPLYDLSKQDIDNADFEIVVILEGMVEATAMTTQCRSSYLANEI
LWGHCYEPVLFEEKHYYKVDYSRFHKTYEVPNTPLCSARDLAEKKYILSNANSFCYENEVALTSKEEDDSENGVPESTST
DTPPDIDLHNQASVPLEPRPLRRESEI*

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:27920829   PMID:28492532   PMID:30615648   PMID:30975432   PMID:31737537   PMID:32184906  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000170995 CLINVAR
  RCV000208475 CLINVAR
  RCV000496264 CLINVAR
  RCV000816436 CLINVAR
  RCV002372065 CLINVAR
dbSNP (RS) rs202067116 CLINVAR
MedGen C0042510 CLINVAR
  C1563715 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene KCNJ2 CLINVAR
OMIM 170390 CLINVAR
  600681 CLINVAR
  609622 CLINVAR
SNOMED CT 422348008 CLINVAR
  71908006 CLINVAR