rs553103939 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 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
Advanced Search (OLGA)

Variant: rs553103939 -  Homo sapiens

RGD ID: 152142283
RS ID: rs553103939
ClinVar ID: CV1586602
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ILK  TAF10  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 6,631,364
GRCh38 11 6,610,133
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_006284.4:c.*789C>T
NM_001014794.3:c.1079-15G>A
NM_001014795.3:c.1079-15G>A
NM_004517.4:c.1079-15G>A
More... 		07/07/2021 3 prime utr variant likely benign Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1586602Humanfamilial hypertrophic cardiomyopathy  IAGP 8554872ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathyClinVarPMID:28492532
Gene Symbol:TAF10
Accession:NM_006284
Location:3UTRS;EXON

Gene Symbol:ILK
Accession:NM_004517
Location:INTRON

Gene Symbol:ILK
Accession:NM_001014794
Location:INTRON

Gene Symbol:ILK
Accession:NM_001014795
Location:INTRON

Gene Symbol:ILK
Accession:NM_001278441
Location:INTRON

Gene Symbol:ILK
Accession:NM_001278442
Location:INTRON

Gene Symbol:ILK
Accession:XM_005252904
Location:INTRON

Gene Symbol:ILK
Accession:XM_011520065
Location:INTRON

Gene Symbol:ILK
Accession:XM_024448499
Location:INTRON

Gene Symbol:ILK
Accession:XM_024448498
Location:INTRON

Gene Symbol:ILK
Accession:XM_047426885
Location:INTRON

.
PMID:28492532  



1 to 9 of 9 rows
Database
Acc Id
Source(s)
ClinVar RCV002178214 CLINVAR
dbSNP (RS) rs553103939 CLINVAR
MedGen C0949658 CLINVAR
NCBI Gene ILK CLINVAR
  TAF10 CLINVAR
OMIM 192600 CLINVAR
  600475 CLINVAR
  602366 CLINVAR
SNOMED CT 83978005 CLINVAR
1 to 9 of 9 rows