RGD:28905510 Rat Genome Database

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Variant: RGD:28905510 -  Homo sapiens

RGD ID: 28905510
RS ID: rs1397220907
ClinVar ID: CV898787
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNFRSF11B  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 119,935,814
GRCh38 8 118,923,575
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.11:g.118923575C>T
NC_000008.10:g.119935814C>T
NM_002546.3:c.*799G>A
NG_012202.1:g.33570G>A
More... 		01/13/2018 3 prime utr variant uncertain significance 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 RCV001158476 CLINVAR
dbSNP (RS) rs1397220907 CLINVAR
MedGen C0268414 CLINVAR
NCBI Gene TNFRSF11B CLINVAR
OMIM 239000 CLINVAR
  602643 CLINVAR
SNOMED CT 9723006 CLINVAR