RGD:11614036 Rat Genome Database

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Variant: RGD:11614036 -  Homo sapiens

RGD ID: 11614036
RS ID: rs575443810
ClinVar ID: CV331488
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNA1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 5,023,340
GRCh38 12 4,914,174
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.9268C>T
NC_000012.12:g.4914174C>T
NC_000012.11:g.5023340C>T
NM_000217.3:c.*1308C>T
More... 		01/13/2018 3 prime utr variant likely benign|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:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000273627 CLINVAR
  RCV000330999 CLINVAR
dbSNP (RS) rs575443810 CLINVAR
MedGen C1719788 CLINVAR
  C1720189 CLINVAR
NCBI Gene KCNA1 CLINVAR
OMIM 160120 CLINVAR
  176260 CLINVAR
SNOMED CT 421182009 CLINVAR