RGD:15172566 Rat Genome Database

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Variant: RGD:15172566 -  Homo sapiens

RGD ID: 15172566
RS ID: rs144773234
ClinVar ID: CV711453
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNFRSF10A  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 23,049,208
GRCh38 8 23,191,695
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.23191695C>A
NC_000008.10:g.23049208C>A
NM_003844.3:c.1406G>T
NP_003835.3:p.Ter469Leu
More... 		06/16/2018 stop lost benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TNFRSF10A
Accession:NM_003844
Location:EXON
Amino Acid Prediction: * to L (nonsynonymous)
Amino Acid Position: 469
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPPPARVHLGAFLAVTPNPGSAASGTEAAAATPSKVWGSSAGRIEPRGGGRGALPTSMGQHGPSARARAGRAPGPRPAR
EASPRLRVHKTFKFVVVGVLLQVVPSSAATIKLHDQSIGTQQWEHSPLGELCPPGSHRSEHPGACNRCTEGVGYTNASNN
LFACLPCTACKSDEEERSPCTTTRNTACQCKPGTFRNDNSAEMCRKCSRGCPRGMVKVKDCTPWSDIECVHKESGNGHNI
WVILVVTLVVPLLLVAVLIVCCCIGSGCGGDPKCMDRVCFWRLGLLRGPGAEDNAHNEILSNADSLSTFVSEQQMESQEP
ADLTGVTVQSPGEAQCLLGPAEAEGSQRRRLLVPANGADPTETLMLFFDKFANIVPFDSWDQLMRQLDLTKNEIDVVRAG
TAGPGDALYAMLMKWVNKTGRNASIHTLLDALERMEERHAREKIQDLLVDSGKFIYLEDGTGSAVSLEL
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000966201 CLINVAR
dbSNP (RS) rs144773234 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TNFRSF10A CLINVAR
OMIM 603611 CLINVAR