RGD:8596110 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:8596110 -  Homo sapiens

RGD ID: 8596110
RS ID: rs28941781
ClinVar ID: CV18431
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMIE  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 46,750,678
GRCh38 3 46,709,188
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_011628.1:g.12856C>T
NC_000003.12:g.46709188C>T
NC_000003.11:g.46750678C>T
NP_671729.2:p.Arg92Trp
More... 		02/07/2018 missense|missense variant pathogenic|conflicting interpretations of pathogenicity|uncertain significance neonatal/infancy Deafness, autosomal recessive 6; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 6
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMIE
Accession:NM_001370524
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLWHVVGIFSLFVLSIIITLCCVFNCRVPRTRKEIEAWYLQRKAAKMYTDKLETVPPLNELTEVPGEDKKKKKKKKKDS
VDTVAIKVEEDEKNEAKKKKGEK*

Gene Symbol:TMIE
Accession:NM_147196
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGWPGAGPLCVLGGAALGVCLAGVAGQLVEPSTAPPKPKPPPLTKETVVFWDMRLWHVVGIFSLFVLSIIITLCCVFNC
RVPRTRKEIEAWYLQRKAAKMYTDKLETVPPLNELTEVPGEDKKKKKKKKKDSVDTVAIKVEEDEKNEAKKKKGEK*

Gene Symbol:TMIE
Accession:NM_001370525
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLWHVVGIFSLFVLSIIITLCCVFNCRVPRTRKEIEAWYLQRKAAKMYTDKLETVPPLNELTEVPGEDKKKKKKKKKDS
VDTVAIKVEEDEKNEAKKKKGEK*
Variant Samples
Additional References at PubMed
PMID:12145746   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000003559 CLINVAR
dbSNP (RS) rs28941781 CLINVAR
MedGen C1832992 CLINVAR
NCBI Gene TMIE CLINVAR
OMIM 600971 CLINVAR
  607237 CLINVAR
OMIM Allele 607237.0004 CLINVAR