RGD:9688848 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:9688848 -  Homo sapiens

RGD ID: 9688848
RS ID: rs727504242
ClinVar ID: CV176074
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TNNI3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 55,665,450
GRCh38 19 55,154,082
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007866.2:g.8651C>T
NC_000019.10:g.55154082G>A
NC_000019.9:g.55665450G>A
NP_000354.4:p.Ser166Phe
More... 		12/30/2021 missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance Cardiomyopathies; CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7, MODIFIER OF; Familial hypertrophic cardiomyopathy 7; HYPERTROPHIC MYOCARDIOPATHY; none provided; TNNI3-Related Familial Hypertrophic Cardiomyopathy
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:TNNI3
Accession:NM_000363
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 166
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADGSSDAAREPRPAPAPIRRRSSNYRAYATEPHAKKKSKISASRKLQLKTLLLQIAKQELEREAEERRGEKGRALSTRC
QPLELAGLGFAELQDLCRQLHARVDKVDEERYDIEAKVTKNITEIADLTQKIFDLRGKFKRPTLRRVRISADAMMQALLG
ARAKEFLDLRAHLKQVKKEDTEKENREVGDWRKNIDALSGMEGRKKKFES*
Variant Samples
Additional References at PubMed
PMID:11121119   PMID:12860912   PMID:12974739   PMID:15519027   PMID:15607392   PMID:21533915   PMID:21839045   PMID:22361390   PMID:22675533   PMID:24033266   PMID:24510615   PMID:25741868  
PMID:26440512   PMID:26914223   PMID:27532257   PMID:28492532   PMID:30297972   PMID:30847666   PMID:31447099   PMID:31737537   PMID:33662488   PMID:35470684   PMID:35626289   PMID:36411388  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000159230 CLINVAR
  RCV000628993 CLINVAR
  RCV000709766 CLINVAR
  RCV001798495 CLINVAR
  RCV002336315 CLINVAR
dbSNP (RS) rs727504242 CLINVAR
MedGen C0007194 CLINVAR
  C0878544 CLINVAR
  C1860752 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene TNNI3 CLINVAR
OMIM 191044 CLINVAR
  613690 CLINVAR
SNOMED CT 85898001 CLINVAR