RGD:11614374 Rat Genome Database

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Variant: RGD:11614374 -  Homo sapiens

RGD ID: 11614374
RS ID: rs12817318
ClinVar ID: CV332918
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNA1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 5,020,411
GRCh38 12 4,911,245
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.6339G>T
NC_000012.12:g.4911245G>T
NC_000012.11:g.5020411G>T
NM_000217.3:c.-134G>T
More... 		12/26/2019 5 prime utr variant benign|likely benign ATAXIA, EPISODIC, WITH MYOKYMIA; EA syndrome; Episodic Ataxia syndrome; MYOKYMIA WITH PERIODIC ATAXIA; none provided; PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNA1
Accession:NM_000217
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000276296 CLINVAR
  RCV000371321 CLINVAR
  RCV001672473 CLINVAR
dbSNP (RS) rs12817318 CLINVAR
MedGen C1719788 CLINVAR
  C1720189 CLINVAR
  C3661900 CLINVAR
NCBI Gene KCNA1 CLINVAR
OMIM 160120 CLINVAR
  176260 CLINVAR
SNOMED CT 421182009 CLINVAR