RGD:8659794 Rat Genome Database

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Variant: RGD:8659794 -  Homo sapiens

RGD ID: 8659794
RS ID: rs4766309
ClinVar ID: CV134759
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNA1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 5,021,984
GRCh38 12 4,912,818
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.7912T>A
NC_000012.12:g.4912818T>A
NC_000012.11:g.5021984T>A
NP_000208.2:p.Thr480=
More... 		05/06/2018 synonymous variant benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; ATAXIA, EPISODIC, WITH MYOKYMIA; MYOKYMIA WITH PERIODIC ATAXIA; none provided; PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Myokymia  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:KCNA1
Accession:NM_000217
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 480
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTVMSGENVDEASAAPGHPQDGSYPRQADHDDHECCERVVINISGLRFETQLKTLAQFPNTLLGNPKKRMRYFDPLRNEY
FFDRNRPSFDAILYYYQSGGRLRRPVNVPLDMFSEEIKFYELGEEAMEKFREDEGFIKEEERPLPEKEYQRQVWLLFEYP
ESSGPARVIAIVSVMVILISIVIFCLETLPELKDDKDFTGTVHRIDNTTVIYNSNIFTDPFFIVETLCIIWFSFELVVRF
FACPSKTDFFKNIMNFIDIVAIIPYFITLGTEIAEQEGNQKGEQATSLAILRVIRLVRVFRIFKLSRHSKGLQILGQTLK
ASMRELGLLIFFLFIGVILFSSAVYFAEAEEAESHFSSIPDAFWWAVVSMTTVGYGDMYPVTIGGKIVGSLCAIAGVLTI
ALPVPVIVSNFNYFYHRETEGEEQAQLLHVSSPNLASDSDLSRRSSSTMSKSEYMEIEEDMNNSIAHYRQVNIRTANCTT
ANQNCVNKSKLLTDV*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000117314 CLINVAR
  RCV000297286 CLINVAR
  RCV000606572 CLINVAR
  RCV000712102 CLINVAR
dbSNP (RS) rs4766309 CLINVAR
MedGen C0684219 CLINVAR
  C1719788 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene KCNA1 CLINVAR
OMIM 160120 CLINVAR
  176260 CLINVAR
SNOMED CT 421182009 CLINVAR