RGD:11581914 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:11581914 -  Homo sapiens

RGD ID: 11581914
RS ID: rs145553035
ClinVar ID: CV273658
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SYN3  TIMP3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 33,254,008
GRCh38 22 32,858,021
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NC_000022.11:g.32858021C>T
NC_000022.10:g.33254008C>T
NP_000353.1:p.Arg107=
NM_000362.5:c.321C>T
More... 		06/25/2023 intron variant|synonymous variant likely benign|conflicting interpretations of pathogenicity|uncertain significance adult Fundus dystrophy, pseudoinflammatory, of Sorsby; Macular dystrophy, hemorrhagic; none provided; Sorsby fundus dystrophy, Lavia type; Sorsby's pseudoinflammatory macular dystrophy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TIMP3
Accession:NM_000362
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPWLGLIVLLGSWSLGDWGAEACTCSPSHPQDAFCNSDIVIRAKVVGKKLVKEGPFGTLVYTIKQMKMYRGFTKMPHVQ
YIHTEASESLCGLKLEVNKYQYLLTGRVYDGKMYTGLCNFVERWDQLTLSQRKGLNYRYHLGCNCKIKSCYYLPCFVTSK
NECLWTDMLSNFGYPGYQSKHYACIRQKGGYCSWYRGWAPPDKSIINATDP*

Gene Symbol:SYN3
Accession:NM_001135774
Location:INTRON

Gene Symbol:SYN3
Accession:NM_001369907
Location:INTRON

Gene Symbol:SYN3
Accession:XM_047441530
Location:INTRON

Gene Symbol:SYN3
Accession:XM_047441526
Location:INTRON

Gene Symbol:SYN3
Accession:XM_017028962
Location:INTRON

Gene Symbol:SYN3
Accession:XM_011530405
Location:INTRON

Gene Symbol:SYN3
Accession:XM_047441525
Location:INTRON

Gene Symbol:SYN3
Accession:XM_047441528
Location:INTRON

Gene Symbol:SYN3
Accession:NM_001369910
Location:INTRON

Gene Symbol:SYN3
Accession:XM_011530410
Location:INTRON

Gene Symbol:SYN3
Accession:XM_047441527
Location:INTRON

Gene Symbol:SYN3
Accession:XM_017028961
Location:INTRON

Gene Symbol:SYN3
Accession:NM_003490
Location:INTRON

Gene Symbol:SYN3
Accession:NM_001369908
Location:INTRON

Gene Symbol:SYN3
Accession:NM_133633
Location:INTRON

Gene Symbol:SYN3
Accession:XM_017028963
Location:INTRON

Gene Symbol:SYN3
Accession:NM_001369909
Location:INTRON

Gene Symbol:SYN3
Accession:XM_047441529
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000389784 CLINVAR
  RCV000403575 CLINVAR
dbSNP (RS) rs145553035 CLINVAR
MedGen C1850938 CLINVAR
  C3661900 CLINVAR
NCBI Gene SYN3 CLINVAR
  TIMP3 CLINVAR
OMIM 136900 CLINVAR
  188826 CLINVAR
  602705 CLINVAR