RGD:11610602 Rat Genome Database

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Variant: RGD:11610602 -  Homo sapiens

RGD ID: 11610602
RS ID: rs373330021
ClinVar ID: CV307680
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNFRSF11B  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 119,964,040
GRCh38 8 118,951,801
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.5344C>T
NC_000008.11:g.118951801G>A
NC_000008.10:g.119964040G>A
NP_002537.3:p.Cys7=
More... 		06/20/2018 synonymous variant benign|likely benign|uncertain significance childhood <1 / 1 000 000 Hyperostosis corticalis deformans juvenilis; Hyperphosphatasemia, chronic congenital idiopathic; Hyperphosphatasia, familial idiopathic; none provided; 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:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNNLLCCALVFLDISIKWTTQETFPPKYLHYDEETSHQLLCDKCPPGTYLKQHCTAKWKTVCAPCPDHYYTDSWHTSDEC
LYCSPVCKELQYVKQECNRTHNRVCECKEGRYLEIEFCLKHRSCPPGFGVVQAGTPERNTVCKRCPDGFFSNETSSKAPC
RKHTNCSVFGLLLTQKGNATHDNICSGNSESTQKCGIDVTLCEEAFFRFAVPTKFTPNWLSVLVDNLPGTKVNAESVERI
KRQHSSQEQTFQLLKLWKHQNKDQDIVKKIIQDIDLCENSVQRHIGHANLTFEQLRSLMESLPGKKVGAEDIEKTIKACK
PSDQILKLLSLWRIKNGDQDTLKGLMHALKHSKTYHFPKTVTQSLKKTIRFLHSFTMYKLYQKLFLEMIGNQVQSVKISC
L*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000383882 CLINVAR
  RCV000899781 CLINVAR
dbSNP (RS) rs373330021 CLINVAR
MedGen C0268414 CLINVAR
  C3661900 CLINVAR
NCBI Gene TNFRSF11B CLINVAR
OMIM 239000 CLINVAR
  602643 CLINVAR
SNOMED CT 9723006 CLINVAR