RGD:13481375 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:13481375 -  Homo sapiens

RGD ID: 13481375
RS ID: rs1170574405
ClinVar ID: CV445567
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TBX6  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 30,100,293
GRCh38 16 30,088,972
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000016.10:g.30088972T>G
NP_004599.2:p.Thr198Pro
NG_023283.1:g.7913A>C
NC_000016.9:g.30100293T>G
More... 		10/23/2017 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:TBX6
Accession:NM_004608
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 198
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYHPRELYPSLGAGYRLGPAQPGADSSFPPALAEGYRYPELDTPKLDCFLSGMEAAPRTLAAHPPLPLLPPAMGTEPAPS
APEALHSLPGVSLSLENRELWKEFSSVGTEMIITKAGRRMFPACRVSVTGLDPEARYLFLLDVIPVDGARYRWQGRRWEP
SGKAEPRLPDRVYIHPDSPATGAHWMRQPVSFHRVKLPNSTLDPHGHLILHSMHKYQPRIHLVRAAQLCSQHWGGMASFR
FPETTFISVTAYQNPQITQLKIAANPFAKGFRENGRNCKRERDARVKRKLRGPEPAATEAYGSGDTPGGPCDSTLGGDIR
ESDPEQAPAPGEATAAPAPLCGGPSAEAYLLHPAAFHGAPSHLPTRSPSFPEAPDSGRSAPYSAAFLELPHGSGGSGYPA
APPAVPFAPHFLQGGPFPLPYTAPGGYLDVGSKPMY*

Gene Symbol:TBX6
Accession:XM_047434551
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 198
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYHPRELYPSLGAGYRLGPAQPGADSSFPPALAEGYRYPELDTPKLDCFLSGMEAAPRTLAAHPPLPLLPPAMGTEPAPS
APEALHSLPGVSLSLENRELWKEFSSVGTEMIITKAGRRMFPACRVSVTGLDPEARYLFLLDVIPVDGARYRWQGRRWEP
SGKAEPRLPDRVYIHPDSPATGAHWMRQPVSFHRVKLPNSTLDPHGHLILHSMHKYQPRIHLVRAAQLCSQHWGGMASFR
FPETTFISVTAYQNPQITQLKIAANPFAKGFRENGRNCKRERDARVKRKLRGPEPAATEAYGSGDTPGGPCDSTLGGDIR
ESDPEQAPAPGEATAAPAPLCGGPSAEAYLLHPAAFHGAPSHLPTRSPSFPEAPDSGRSAPYSAAFLELPHGSGGSGYPA
APPAVPFAPHFLQGGPFPLPYTAPGGYLDVGSKPMY*

Gene Symbol:TBX6
Accession:XM_011545926
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 198
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYHPRELYPSLGAGYRLGPAQPGADSSFPPALAEGYRYPELDTPKLDCFLSGMEAAPRTLAAHPPLPLLPPAMGTEPAPS
APEALHSLPGVSLSLENRELWKEFSSVGTEMIITKAGRRMFPACRVSVTGLDPEARYLFLLDVIPVDGARYRWQGRRWEP
SGKAEPRLPDRVYIHPDSPATGAHWMRQPVSFHRVKLPNSTLDPHGHLILHSMHKYQPRIHLVRAAQLCSQHWGGMASFR
FPETTFISVTAYQNPQITQLKIAANPFAKGFRENGRNCKRERDARVKRKLRGPEPAATEAYGSGDTPGGPCDSTLGGDIR
ESDPEQAPAPGEATAAPAPLCGGPSAEAYLLHPAAFHGAPSHLPTRSPSFPEAPDSGRSAPYSAAFLELPHGSGGSGYPA
APPAVPFAPHFLQGGPFPLPYTAPGGYLDVGSKPMY*

Gene Symbol:TBX6
Accession:XR_007064904
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000521488 CLINVAR
dbSNP (RS) rs1170574405 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene TBX6 CLINVAR
OMIM 602427 CLINVAR