RGD:11620803 Rat Genome Database

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Variant: RGD:11620803 -  Homo sapiens

RGD ID: 11620803
RS ID: rs113587682
ClinVar ID: CV331461
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNA1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 5,020,310
GRCh38 12 4,911,144
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.6238C>A
NC_000012.12:g.4911144C>A
NC_000012.11:g.5020310C>A
NM_000217.3:c.-235C>A
More... 		01/12/2018 5 prime utr variant benign|likely benign 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:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000341021 CLINVAR
  RCV000392399 CLINVAR
  RCV002274989 CLINVAR
dbSNP (RS) rs113587682 CLINVAR
MedGen C0684219 CLINVAR
  C1719788 CLINVAR
  C3661900 CLINVAR
NCBI Gene KCNA1 CLINVAR
OMIM 160120 CLINVAR
  176260 CLINVAR
SNOMED CT 421182009 CLINVAR