RGD:155950022 Rat Genome Database

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Variant: RGD:155950022 -  Homo sapiens

RGD ID: 155950022
ClinVar ID: CV2267758
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNFRSF11B  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 119,936,717
GRCh38 8 118,924,478
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.1102A>G
NG_012202.1:g.32667A>G
NC_000008.11:g.118924478T>C
NC_000008.10:g.119936717T>C
More... 		04/08/2022 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TNFRSF11B
Accession:NM_002546
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 368
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNNLLCCALVFLDISIKWTTQETFPPKYLHYDEETSHQLLCDKCPPGTYLKQHCTAKWKTVCAPCPDHYYTDSWHTSDEC
LYCSPVCKELQYVKQECNRTHNRVCECKEGRYLEIEFCLKHRSCPPGFGVVQAGTPERNTVCKRCPDGFFSNETSSKAPC
RKHTNCSVFGLLLTQKGNATHDNICSGNSESTQKCGIDVTLCEEAFFRFAVPTKFTPNWLSVLVDNLPGTKVNAESVERI
KRQHSSQEQTFQLLKLWKHQNKDQDIVKKIIQDIDLCENSVQRHIGHANLTFEQLRSLMESLPGKKVGAEDIEKTIKACK
PSDQILKLLSLWRIKNGDQDTLKGLMHALKHSKTYHFPKTVTQSLKKAIRFLHSFTMYKLYQKLFLEMIGNQVQSVKISC
L*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002840268 CLINVAR
  RCV003738318 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene TNFRSF11B CLINVAR
OMIM 602643 CLINVAR