RGD:11647910 Rat Genome Database

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Variant: RGD:11647910 -  Homo sapiens

RGD ID: 11647910
RS ID: rs886049509
ClinVar ID: CV332919
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNA1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 5,020,847
GRCh38 12 4,911,681
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.6775C>T
NC_000012.12:g.4911681C>T
NC_000012.11:g.5020847C>T
NP_000208.2:p.Arg101=
More... 		06/14/2016 synonymous variant uncertain significance ATAXIA, EPISODIC, WITH MYOKYMIA; EA syndrome; Episodic Ataxia syndrome; MYOKYMIA WITH PERIODIC ATAXIA; 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: R to R (synonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTVMSGENVDEASAAPGHPQDGSYPRQADHDDHECCERVVINISGLRFETQLKTLAQFPNTLLGNPKKRMRYFDPLRNEY
FFDRNRPSFDAILYYYQSGGRLRRPVNVPLDMFSEEIKFYELGEEAMEKFREDEGFIKEEERPLPEKEYQRQVWLLFEYP
ESSGPARVIAIVSVMVILISIVIFCLETLPELKDDKDFTGTVHRIDNTTVIYNSNIFTDPFFIVETLCIIWFSFELVVRF
FACPSKTDFFKNIMNFIDIVAIIPYFITLGTEIAEQEGNQKGEQATSLAILRVIRLVRVFRIFKLSRHSKGLQILGQTLK
ASMRELGLLIFFLFIGVILFSSAVYFAEAEEAESHFSSIPDAFWWAVVSMTTVGYGDMYPVTIGGKIVGSLCAIAGVLTI
ALPVPVIVSNFNYFYHRETEGEEQAQLLHVSSPNLASDSDLSRRSSSTMSKSEYMEIEEDMNNSIAHYRQVNIRTANCTT
ANQNCVNKSKLLTDV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000278942 CLINVAR
  RCV000373544 CLINVAR
dbSNP (RS) rs886049509 CLINVAR
MedGen C1719788 CLINVAR
  C1720189 CLINVAR
NCBI Gene KCNA1 CLINVAR
OMIM 160120 CLINVAR
  176260 CLINVAR
SNOMED CT 421182009 CLINVAR