RGD:11617909 Rat Genome Database

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Variant: RGD:11617909 -  Homo sapiens

RGD ID: 11617909
RS ID: rs766143485
ClinVar ID: CV329625
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 68,171,299
GRCh38 17 70,175,158
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
NM_000891.2:c.119G>A
LRG_328t1:c.119G>A
LRG_328:g.10624G>A
NG_008798.1:g.10624G>A
More... 		03/08/2022 missense variant uncertain significance childhood 1-9 / 1 000 000 Andersen cardiodysrhythmic periodic paralysis; Andersen Syndrome; Atrial fibrillation, familial, 9; 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; Sudden Infant Death
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNJ2
Accession:NM_000891
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 40
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSVRTNRYSIVSSEEDGMKLATMAVANGFGNGKSKVHTQQQCRSRFVKKDGHCNVQFINVGEKGQRYLADIFTTCVDIR
WRWMLVIFCLAFVLSWLFFGCVFWLIALLHGDLDASKEGKACVSEVNSFTAAFLFSIETQTTIGYGFRCVTDECPIAVFM
VVFQSIVGCIIDAFIIGAVMAKMAKPKKRNETLVFSHNAVIAMRDGKLCLMWRVGNLRKSHLVEAHVRAQLLKSRITSEG
EYIPLDQIDINVGFDSGIDRIFLVSPITIVHEIDEDSPLYDLSKQDIDNADFEIVVILEGMVEATAMTTQCRSSYLANEI
LWGHRYEPVLFEEKHYYKVDYSRFHKTYEVPNTPLCSARDLAEKKYILSNANSFCYENEVALTSKEEDDSENGVPESTST
DTPPDIDLHNQASVPLEPRPLRRESEI*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28341588   PMID:28492532   PMID:29874177  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000308982 CLINVAR
  RCV000347359 CLINVAR
  RCV000406881 CLINVAR
  RCV000489623 CLINVAR
  RCV000795350 CLINVAR
  RCV001788198 CLINVAR
  RCV002348069 CLINVAR
  RCV002487428 CLINVAR
dbSNP (RS) rs766143485 CLINVAR
MedGen C0038644 CLINVAR
  C1563715 CLINVAR
  C1865018 CLINVAR
  C3151431 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene KCNJ2 CLINVAR
OMIM 170390 CLINVAR
  272120 CLINVAR
  600681 CLINVAR
  609622 CLINVAR
  613980 CLINVAR
SNOMED CT 422348008 CLINVAR
  51178009 CLINVAR