RGD:21071280 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:21071280 -  Homo sapiens

RGD ID: 21071280
RS ID: rs1577182394
ClinVar ID: CV790372
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TP63  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 189,597,868
GRCh38 3 189,880,079
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001329146.2:c.813-6315C>A
NM_001114982.2:c.1083C>A
NG_007550.3:g.288334C>A
NC_000003.12:g.189880079C>A
More... 		05/28/2019 intron variant likely benign Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome; Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome Type 3 (EEC3); EEC SYNDROME 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TP63
Accession:NM_001114982
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 361
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLYLENNAQTQFSEPQYTNLGLLNSMDQQIQNGSSSTSPYNTDHAQNSVTAPSPYAQPSSTFDALSPSPAIPSNTDYPGP
HSFDVSFQQSSTAKSATWTYSTELKKLYCQIAKTCPIQIKVMTPPPQGAVIRAMPVYKKAEHVTEVVKRCPNHELSREFN
EGQIAPPSHLIRVEGNSHAQYVEDPITGRQSVLVPYEPPQVGTEFTTVLYNFMCNSSCVGGMNRRPILIIVTLETRDGQV
LGRRCFEARICACPGRDRKADEDSIRKQQVSDSTKNGDGTKRPFRQNTHGIQMTSIKKRRSPDDELLYLPVRGRETYEML
LKIKESLELMQYLPQHTIETYRQQQQQQHQHLLQKHLLSA*FRNELVEPRRETPKQSDVFFRHSKPPNRSVYP*

Gene Symbol:TP63
Accession:NM_001114979
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 455
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNFETSRCATLQYCPDPYIQRFVETPAHFSWKESYYRSTMSQSTQTNEFLSPEVFQHIWDFLEQPICSVQPIDLNFVDEP
SEDGATNKIEISMDCIRMQDSDLSDPMWPQYTNLGLLNSMDQQIQNGSSSTSPYNTDHAQNSVTAPSPYAQPSSTFDALS
PSPAIPSNTDYPGPHSFDVSFQQSSTAKSATWTYSTELKKLYCQIAKTCPIQIKVMTPPPQGAVIRAMPVYKKAEHVTEV
VKRCPNHELSREFNEGQIAPPSHLIRVEGNSHAQYVEDPITGRQSVLVPYEPPQVGTEFTTVLYNFMCNSSCVGGMNRRP
ILIIVTLETRDGQVLGRRCFEARICACPGRDRKADEDSIRKQQVSDSTKNGDGTKRPFRQNTHGIQMTSIKKRRSPDDEL
LYLPVRGRETYEMLLKIKESLELMQYLPQHTIETYRQQQQQQHQHLLQKHLLSA*FRNELVEPRRETPKQSDVFFRHSKP
PNRSVYP*

Gene Symbol:TP63
Accession:NM_001329144
Location:INTRON

Gene Symbol:TP63
Accession:NM_001114981
Location:INTRON

Gene Symbol:TP63
Accession:NM_001329964
Location:INTRON

Gene Symbol:TP63
Accession:NM_001329148
Location:INTRON

Gene Symbol:TP63
Accession:NM_001329145
Location:INTRON

Gene Symbol:TP63
Accession:NM_001329146
Location:INTRON

Gene Symbol:TP63
Accession:NM_003722
Location:INTRON

Gene Symbol:TP63
Accession:NM_001114978
Location:INTRON

Gene Symbol:TP63
Accession:NM_001329150
Location:INTRON

Gene Symbol:TP63
Accession:NM_001114980
Location:INTRON

Gene Symbol:TP63
Accession:NM_001329149
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000987373 CLINVAR
dbSNP (RS) rs1577182394 CLINVAR
MedGen C1858562 CLINVAR
NCBI Gene TP63 CLINVAR
OMIM 603273 CLINVAR
  604292 CLINVAR