RGD:10046189 Rat Genome Database

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Variant: RGD:10046189 -  Homo sapiens

RGD ID: 10046189
RS ID: rs201162707
ClinVar ID: CV189367
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 68,172,064
GRCh38 17 70,175,923
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_328t1:c.884T>C
LRG_328:g.11389T>C
NG_008798.1:g.11389T>C
NC_000017.11:g.70175923T>C
More... 		08/11/2022 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: V to A (nonsynonymous)
Amino Acid Position: 295
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSVRTNRYSIVSSEEDGMKLATMAVANGFGNGKSKVHTRQQCRSRFVKKDGHCNVQFINVGEKGQRYLADIFTTCVDIR
WRWMLVIFCLAFVLSWLFFGCVFWLIALLHGDLDASKEGKACVSEVNSFTAAFLFSIETQTTIGYGFRCVTDECPIAVFM
VVFQSIVGCIIDAFIIGAVMAKMAKPKKRNETLVFSHNAVIAMRDGKLCLMWRVGNLRKSHLVEAHVRAQLLKSRITSEG
EYIPLDQIDINVGFDSGIDRIFLVSPITIVHEIDEDSPLYDLSKQDIDNADFEIAVILEGMVEATAMTTQCRSSYLANEI
LWGHRYEPVLFEEKHYYKVDYSRFHKTYEVPNTPLCSARDLAEKKYILSNANSFCYENEVALTSKEEDDSENGVPESTST
DTPPDIDLHNQASVPLEPRPLRRESEI*
Variant Samples
Additional References at PubMed
PMID:23861362   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000171667 CLINVAR
  RCV002485096 CLINVAR
dbSNP (RS) rs201162707 CLINVAR
MedGen C1563715 CLINVAR
  CN517202 CLINVAR
NCBI Gene KCNJ2 CLINVAR
OMIM 170390 CLINVAR
  600681 CLINVAR
  609622 CLINVAR
  613980 CLINVAR
SNOMED CT 422348008 CLINVAR