RGD:28874328 Rat Genome Database

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Variant: RGD:28874328 -  Homo sapiens

RGD ID: 28874328
RS ID: rs767927201
ClinVar ID: CV898798
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNFRSF11B  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 119,938,830
GRCh38 8 118,926,591
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002546.4:c.720A>G
NG_012202.1:g.30554A>G
NC_000008.10:g.119938830T>C
NC_000008.11:g.118926591T>C
More... 		01/13/2018 missense 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:EXON
Amino Acid Prediction: I to M (nonsynonymous)
Amino Acid Position: 240
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNNLLCCALVFLDISIKWTTQETFPPKYLHYDEETSHQLLCDKCPPGTYLKQHCTAKWKTVCAPCPDHYYTDSWHTSDEC
LYCSPVCKELQYVKQECNRTHNRVCECKEGRYLEIEFCLKHRSCPPGFGVVQAGTPERNTVCKRCPDGFFSNETSSKAPC
RKHTNCSVFGLLLTQKGNATHDNICSGNSESTQKCGIDVTLCEEAFFRFAVPTKFTPNWLSVLVDNLPGTKVNAESVERM
KRQHSSQEQTFQLLKLWKHQNKDQDIVKKIIQDIDLCENSVQRHIGHANLTFEQLRSLMESLPGKKVGAEDIEKTIKACK
PSDQILKLLSLWRIKNGDQDTLKGLMHALKHSKTYHFPKTVTQSLKKTIRFLHSFTMYKLYQKLFLEMIGNQVQSVKISC
L*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001165307 CLINVAR
dbSNP (RS) rs767927201 CLINVAR
MedGen C0268414 CLINVAR
NCBI Gene TNFRSF11B CLINVAR
OMIM 239000 CLINVAR
  602643 CLINVAR
SNOMED CT 9723006 CLINVAR