RGD:10448426 Rat Genome Database

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Variant: RGD:10448426 -  Homo sapiens

RGD ID: 10448426
RS ID: rs753380048
ClinVar ID: CV214421
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCN2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 184,070,118
GRCh38 3 184,352,330
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.14274G>A
NC_000003.12:g.184352330C>T
NC_000003.11:g.184070118C>T
NM_001171088.3:c.2141G>A
More... 		09/09/2015 missense variant uncertain significance|not provided all ages <1 / 1 000 000 Brain white matter edema; Leukoencephalopathy with ataxia; Leukoencephalopathy with white matter edema
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLCN2
Accession:NM_001171087
Location:EXON

Gene Symbol:CLCN2
Accession:NM_004366
Location:EXON

Gene Symbol:CLCN2
Accession:NM_001171088
Location:EXON

Gene Symbol:CLCN2
Accession:XM_011512401
Location:EXON

Gene Symbol:CLCN2
Accession:XM_006713489
Location:EXON

Gene Symbol:CLCN2
Accession:NM_001171089
Location:EXON

Gene Symbol:CLCN2
Accession:XM_047447419
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:21703448  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000201826 CLINVAR
dbSNP (RS) rs753380048 CLINVAR
MedGen C4554120 CLINVAR
NCBI Gene CLCN2 CLINVAR
OMIM 600570 CLINVAR
  615651 CLINVAR