RGD:155716145 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:155716145 -  Homo sapiens

RGD ID: 155716145
ClinVar ID: CV1780460
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNFRSF11B  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 119,936,999
GRCh38 8 118,924,760
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.820A>G
NG_012202.1:g.32385A>G
NC_000008.11:g.118924760T>C
NC_000008.10:g.119936999T>C
More...
04/12/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:TNFRSF11B
Accession:NM_002546
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 274
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNNLLCCALVFLDISIKWTTQETFPPKYLHYDEETSHQLLCDKCPPGTYLKQHCTAKWKTVCAPCPDHYYTDSWHTSDEC
LYCSPVCKELQYVKQECNRTHNRVCECKEGRYLEIEFCLKHRSCPPGFGVVQAGTPERNTVCKRCPDGFFSNETSSKAPC
RKHTNCSVFGLLLTQKGNATHDNICSGNSESTQKCGIDVTLCEEAFFRFAVPTKFTPNWLSVLVDNLPGTKVNAESVERI
KRQHSSQEQTFQLLKLWKHQNKDQDIVKKIIQDVDLCENSVQRHIGHANLTFEQLRSLMESLPGKKVGAEDIEKTIKACK
PSDQILKLLSLWRIKNGDQDTLKGLMHALKHSKTYHFPKTVTQSLKKTIRFLHSFTMYKLYQKLFLEMIGNQVQSVKISC
L*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002306065 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene TNFRSF11B CLINVAR
OMIM 602643 CLINVAR