RGD:8599417 Rat Genome Database

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Variant: RGD:8599417 -  Homo sapiens

RGD ID: 8599417
RS ID: rs28933381
ClinVar ID: CV28528
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNA1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 5,021,268
GRCh38 12 4,912,102
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011815.1:g.7196G>C
NC_000012.12:g.4912102G>C
NC_000012.11:g.5021268G>C
NP_000208.2:p.Ala242Pro
More... 		10/14/2016 missense|missense variant pathogenic none provided
Disease Annotations     Click to see Annotation Detail View
Myokymia 1  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:KCNA1
Accession:NM_000217
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 242
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTVMSGENVDEASAAPGHPQDGSYPRQADHDDHECCERVVINISGLRFETQLKTLAQFPNTLLGNPKKRMRYFDPLRNEY
FFDRNRPSFDAILYYYQSGGRLRRPVNVPLDMFSEEIKFYELGEEAMEKFREDEGFIKEEERPLPEKEYQRQVWLLFEYP
ESSGPARVIAIVSVMVILISIVIFCLETLPELKDDKDFTGTVHRIDNTTVIYNSNIFTDPFFIVETLCIIWFSFELVVRF
FPCPSKTDFFKNIMNFIDIVAIIPYFITLGTEIAEQEGNQKGEQATSLAILRVIRLVRVFRIFKLSRHSKGLQILGQTLK
ASMRELGLLIFFLFIGVILFSSAVYFAEAEEAESHFSSIPDAFWWAVVSMTTVGYGDMYPVTIGGKIVGSLCAIAGVLTI
ALPVPVIVSNFNYFYHRETEGEEQAQLLHVSSPNLASDSDLSRRSSSTMSKSEYMEIEEDMNNSIAHYRQVNIRTANCTT
ANQNCVNKSKLLTDV*
Variant Samples
Additional References at PubMed
PMID:11026449   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000014433 CLINVAR
  RCV000441803 CLINVAR
dbSNP (RS) rs28933381 CLINVAR
MedGen C2674766 CLINVAR
  CN517202 CLINVAR
NCBI Gene KCNA1 CLINVAR
OMIM 176260 CLINVAR
OMIM Allele 176260.0010 CLINVAR