RGD:8598143 Rat Genome Database

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Variant: RGD:8598143 -  Homo sapiens

RGD ID: 8598143
RS ID: rs137852681
ClinVar ID: CV24076
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCN2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 184,070,598
GRCh38 3 184,352,810
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
NG_016422.1:g.13794G>A
NC_000003.12:g.184352810C>T
NC_000003.11:g.184070598C>T
NM_001171089.3:c.2144G>A
More... 		09/09/2015 missense|missense variant uncertain significance|not provided all ages <1 / 1 000 000 Brain white matter edema; EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2; Leukoencephalopathy with ataxia; Leukoencephalopathy with white matter edema
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLCN2
Accession:XM_047447419
Location:INTRON

Gene Symbol:CLCN2
Accession:NM_001171087
Location:INTRON

Gene Symbol:CLCN2
Accession:XM_006713489
Location:INTRON

Gene Symbol:CLCN2
Accession:NM_001171088
Location:INTRON

Gene Symbol:CLCN2
Accession:NM_001171089
Location:INTRON

Gene Symbol:CLCN2
Accession:XM_011512401
Location:INTRON

Gene Symbol:CLCN2
Accession:NM_004366
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:12612585   PMID:15252188   PMID:19710712  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000009604 CLINVAR
  RCV000201807 CLINVAR
dbSNP (RS) rs137852681 CLINVAR
MedGen C2750895 CLINVAR
  C4554120 CLINVAR
NCBI Gene CLCN2 CLINVAR
OMIM 600570 CLINVAR
  615651 CLINVAR
OMIM Allele 600570.0003 CLINVAR