RGD:12881151 Rat Genome Database

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Variant: RGD:12881151 -  Homo sapiens

RGD ID: 12881151
RS ID: rs1060500053
ClinVar ID: CV403123
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 68,171,862
GRCh38 17 70,175,721
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.682C>T
LRG_328:g.11187C>T
NG_008798.1:g.11187C>T
NC_000017.11:g.70175721C>T
More... 		05/12/2017 nonsense pathogenic|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; 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 * (nonsynonymous)
Amino Acid Position: 228
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSVRTNRYSIVSSEEDGMKLATMAVANGFGNGKSKVHTRQQCRSRFVKKDGHCNVQFINVGEKGQRYLADIFTTCVDIR
WRWMLVIFCLAFVLSWLFFGCVFWLIALLHGDLDASKEGKACVSEVNSFTAAFLFSIETQTTIGYGFRCVTDECPIAVFM
VVFQSIVGCIIDAFIIGAVMAKMAKPKKRNETLVFSHNAVIAMRDGKLCLMWRVGNLRKSHLVEAHV*AQLLKSRITSEG
EYIPLDQIDINVGFDSGIDRIFLVSPITIVHEIDEDSPLYDLSKQDIDNADFEIVVILEGMVEATAMTTQCRSSYLANEI
LWGHRYEPVLFEEKHYYKVDYSRFHKTYEVPNTPLCSARDLAEKKYILSNANSFCYENEVALTSKEEDDSENGVPESTST
DTPPDIDLHNQASVPLEPRPLRRESEI*
Variant Samples
Additional References at PubMed
PMID:21493816   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001382646 CLINVAR
dbSNP (RS) rs1060500053 CLINVAR
MedGen C1563715 CLINVAR
NCBI Gene KCNJ2 CLINVAR
OMIM 170390 CLINVAR
  600681 CLINVAR
  609622 CLINVAR
SNOMED CT 422348008 CLINVAR