RGD:11624589 Rat Genome Database

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Variant: RGD:11624589 -  Homo sapiens

RGD ID: 11624589
RS ID: rs74002247
ClinVar ID: CV333770
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCN7  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 1,494,987
GRCh38 16 1,444,986
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007567.1:g.35099G>C
NC_000016.10:g.1444986C>G
NC_000016.9:g.1494987C>G
NM_001287.6:c.*1645G>C
More... 		01/12/2018 3 prime utr variant benign|likely benign
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:XM_011522354
Location:3UTRS;EXON

Gene Symbol:CLCN7
Accession:NM_001287
Location:3UTRS;EXON

Gene Symbol:CLCN7
Accession:NM_001114331
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000387689 CLINVAR
dbSNP (RS) rs74002247 CLINVAR
MedGen C0029454 CLINVAR
NCBI Gene CLCN7 CLINVAR
OMIM 602727 CLINVAR