RGD:11617086 Rat Genome Database

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Variant: RGD:11617086 -  Homo sapiens

RGD ID: 11617086
RS ID: rs11831584
ClinVar ID: CV325232
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNA1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 5,019,219
GRCh38 12 4,910,053
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.5147C>T
NC_000012.12:g.4910053C>T
NC_000012.11:g.5019219C>T
NM_000217.3:c.-959C>T
More... 		06/14/2016 5 prime utr variant benign ATAXIA, EPISODIC, WITH MYOKYMIA; MYOKYMIA WITH PERIODIC ATAXIA; 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:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000300754 CLINVAR
  RCV000407829 CLINVAR
dbSNP (RS) rs11831584 CLINVAR
MedGen C0684219 CLINVAR
  C1719788 CLINVAR
NCBI Gene KCNA1 CLINVAR
OMIM 160120 CLINVAR
  176260 CLINVAR
SNOMED CT 421182009 CLINVAR