RGD:11608104 Rat Genome Database

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Variant: RGD:11608104 -  Homo sapiens

RGD ID: 11608104
RS ID: rs11573947
ClinVar ID: CV312847
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNFRSF11B  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 119,936,068
GRCh38 8 118,923,829
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_012202.1:g.33316T>C
NC_000008.11:g.118923829A>G
NC_000008.10:g.119936068A>G
NM_002546.4:c.*545T>C
More... 		01/13/2018 3 prime utr variant likely benign|uncertain significance childhood <1 / 1 000 000 Hyperostosis corticalis deformans juvenilis; Hyperphosphatasemia, chronic congenital idiopathic; Hyperphosphatasia, familial idiopathic; Osteoectasia familial; Paget disease of bone 5; PAGET DISEASE OF BONE 5, JUVENILE-ONSET
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TNFRSF11B
Accession:NM_002546
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000351190 CLINVAR
dbSNP (RS) rs11573947 CLINVAR
MedGen C0268414 CLINVAR
NCBI Gene TNFRSF11B CLINVAR
OMIM 239000 CLINVAR
  602643 CLINVAR
SNOMED CT 9723006 CLINVAR