RGD:13212474 Rat Genome Database

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Variant: RGD:13212474 -  Homo sapiens

RGD ID: 13212474
RS ID: rs1555604000
ClinVar ID: CV426247
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 68,172,154
GRCh38 17 70,176,013
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_328t1:c.974G>A
LRG_328:g.11479G>A
NG_008798.1:g.11479G>A
NC_000017.11:g.70176013G>A
More... 		05/30/2017 missense variant uncertain significance 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
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 H (nonsynonymous)
Amino Acid Position: 325
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSVRTNRYSIVSSEEDGMKLATMAVANGFGNGKSKVHTRQQCRSRFVKKDGHCNVQFINVGEKGQRYLADIFTTCVDIR
WRWMLVIFCLAFVLSWLFFGCVFWLIALLHGDLDASKEGKACVSEVNSFTAAFLFSIETQTTIGYGFRCVTDECPIAVFM
VVFQSIVGCIIDAFIIGAVMAKMAKPKKRNETLVFSHNAVIAMRDGKLCLMWRVGNLRKSHLVEAHVRAQLLKSRITSEG
EYIPLDQIDINVGFDSGIDRIFLVSPITIVHEIDEDSPLYDLSKQDIDNADFEIVVILEGMVEATAMTTQCRSSYLANEI
LWGHHYEPVLFEEKHYYKVDYSRFHKTYEVPNTPLCSARDLAEKKYILSNANSFCYENEVALTSKEEDDSENGVPESTST
DTPPDIDLHNQASVPLEPRPLRRESEI*
Variant Samples
Additional References at PubMed
PMID:24388587   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000498871 CLINVAR
  RCV002383953 CLINVAR
  RCV002475984 CLINVAR
dbSNP (RS) rs1555604000 CLINVAR
MedGen C1563715 CLINVAR
  CN230736 CLINVAR
  CN517202 CLINVAR
NCBI Gene KCNJ2 CLINVAR
OMIM 170390 CLINVAR
  600681 CLINVAR
  609622 CLINVAR
  613980 CLINVAR
SNOMED CT 422348008 CLINVAR