RGD:28874012 Rat Genome Database

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Variant: RGD:28874012 -  Homo sapiens

RGD ID: 28874012
RS ID: rs1802439916
ClinVar ID: CV900323
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCN1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 143,018,795
GRCh38 7 143,321,702
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.13:g.143018795T>G
NM_000083.2:c.563-13T>G
NM_000083.3:c.563-13T>G
NG_009815.2:g.10577T>G
More... 		01/13/2018 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CLCN1
Accession:NM_000083
Location:INTRON

Gene Symbol:CLCN1
Accession:NR_046453
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001165160 CLINVAR
dbSNP (RS) rs1802439916 CLINVAR
MedGen C0027127 CLINVAR
NCBI Gene CLCN1 CLINVAR
OMIM 118425 CLINVAR
  255300 CLINVAR