RGD:11659930 Rat Genome Database

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Variant: RGD:11659930 -  Homo sapiens

RGD ID: 11659930
RS ID: rs886051698
ClinVar ID: CV340615
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCN7  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 1,496,993
GRCh38 16 1,446,992
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001287.6:c.2331+14G>A
NM_001287.5:c.2331+14G>A
NG_007567.1:g.33093G>A
NC_000016.10:g.1446992C>T
More... 		06/14/2016 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View
osteopetrosis  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Osteopetrosis  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:CLCN7
Accession:NM_001114331
Location:INTRON

Gene Symbol:CLCN7
Accession:NM_001287
Location:INTRON

Gene Symbol:CLCN7
Accession:XM_011522354
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000362416 CLINVAR
dbSNP (RS) rs886051698 CLINVAR
MedGen C0029454 CLINVAR
NCBI Gene CLCN7 CLINVAR
OMIM 602727 CLINVAR