RGD:12833322 Rat Genome Database

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Variant: RGD:12833322 -  Homo sapiens

RGD ID: 12833322
RS ID: rs72548732
ClinVar ID: CV364334
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCND3  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 112,319,899
GRCh38 1 111,777,277
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_445t1:c.1519-4G>T
LRG_445:g.216879G>T
NG_032011.2:g.216879G>T
NC_000001.11:g.111777277C>A
More... 		01/17/2020 intron variant benign adult <1 / 1 000 000 AllHighlyPenetrant; Spinocerebellar ataxia 19; Spinocerebellar ataxia 22
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCND3
Accession:NM_004980
Location:INTRON

Gene Symbol:KCND3
Accession:XM_006710629
Location:INTRON

Gene Symbol:KCND3
Accession:XM_017001244
Location:INTRON

Gene Symbol:KCND3
Accession:NM_172198
Location:INTRON

Gene Symbol:KCND3
Accession:XM_011541428
Location:INTRON

Gene Symbol:KCND3
Accession:XM_011541426
Location:INTRON

Gene Symbol:KCND3
Accession:XM_006710632
Location:INTRON

Gene Symbol:KCND3
Accession:XM_011541427
Location:INTRON

Gene Symbol:KCND3
Accession:XM_011541425
Location:INTRON

Gene Symbol:KCND3
Accession:NM_001378969
Location:INTRON

Gene Symbol:KCND3
Accession:NM_001378970
Location:INTRON

Gene Symbol:KCND3
Accession:XM_017001245
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000418278 CLINVAR
  RCV000473349 CLINVAR
  RCV000618672 CLINVAR
dbSNP (RS) rs72548732 CLINVAR
MedGen C1846367 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
NCBI Gene KCND3 CLINVAR
OMIM 605411 CLINVAR
  607346 CLINVAR