RGD:8599420 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:8599420 -  Homo sapiens

RGD ID: 8599420
RS ID: rs28933383
ClinVar ID: CV28531
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNA1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 5,021,221
GRCh38 12 4,912,055
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_011815.1:g.7149C>G
NC_000012.12:g.4912055C>G
NC_000012.11:g.5021221C>G
NP_000208.2:p.Thr226Arg
More...
06/22/2020 missense|missense variant pathogenic childhood|infancy ATAXIA, EPISODIC, WITH MYOKYMIA; MYOKYMIA WITH PERIODIC ATAXIA; none provided; PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNA1
Accession:NM_000217
Location:EXON
Amino Acid Prediction: T to R (nonsynonymous)
Amino Acid Position: 226
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTVMSGENVDEASAAPGHPQDGSYPRQADHDDHECCERVVINISGLRFETQLKTLAQFPNTLLGNPKKRMRYFDPLRNEY
FFDRNRPSFDAILYYYQSGGRLRRPVNVPLDMFSEEIKFYELGEEAMEKFREDEGFIKEEERPLPEKEYQRQVWLLFEYP
ESSGPARVIAIVSVMVILISIVIFCLETLPELKDDKDFTGTVHRIDNTTVIYNSNIFTDPFFIVERLCIIWFSFELVVRF
FACPSKTDFFKNIMNFIDIVAIIPYFITLGTEIAEQEGNQKGEQATSLAILRVIRLVRVFRIFKLSRHSKGLQILGQTLK
ASMRELGLLIFFLFIGVILFSSAVYFAEAEEAESHFSSIPDAFWWAVVSMTTVGYGDMYPVTIGGKIVGSLCAIAGVLTI
ALPVPVIVSNFNYFYHRETEGEEQAQLLHVSSPNLASDSDLSRRSSSTMSKSEYMEIEEDMNNSIAHYRQVNIRTANCTT
ANQNCVNKSKLLTDV*

Variant Samples
Additional References at PubMed
PMID:10355668   PMID:20301785   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000014436 CLINVAR
  RCV001731285 CLINVAR
  RCV001785451 CLINVAR
dbSNP (RS) rs28933383 CLINVAR
MedGen C1719788 CLINVAR
  CN259014 CLINVAR
  CN517202 CLINVAR
NCBI Gene KCNA1 CLINVAR
OMIM 160120 CLINVAR
  176260 CLINVAR
OMIM Allele 176260.0013 CLINVAR
SNOMED CT 421182009 CLINVAR