RGD:11582473 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:11582473 -  Homo sapiens

RGD ID: 11582473
RS ID: rs1131335
ClinVar ID: CV295934
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FLNB  LOC124909485  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 58,157,859
GRCh38 3 58,172,132
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012801.1:g.168733G>A
NC_000003.12:g.58172132G>A
NC_000003.11:g.58157859G>A
NM_001457.4:c.*1370G>A
More... 		01/12/2018 3 prime utr variant benign|likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FLNB
Accession:NM_001164317
Location:3UTRS;EXON

Gene Symbol:FLNB
Accession:NM_001164319
Location:3UTRS;EXON

Gene Symbol:FLNB
Accession:NM_001457
Location:3UTRS;EXON

Gene Symbol:FLNB
Accession:NM_001164318
Location:3UTRS;EXON

Gene Symbol:LOC124909485
Accession:XM_047449435
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLLRVFGLKVGNGWGREGQQLIGGLFTIGRNSVVSGASVGGKSPPYRKWNSPEPDVKGPRVLKHCFLDSYLRRSVGFGI
LQWRAVPPLAKESIQALPGGTQKTEARGGSPSGPLASLGPRKAALWERLSAPSQLRSPLGEVVGLGAESLRWGRRGLSQT
RRRGTHPPLFFCADEATPLARDRAAYLRSWTLELPWKPPQLRVQRSLRPGKTGPLFGPPLGAWHIVGVHQSLLNGIEAAA
PRAPPQSPVGVKVKAWARPSGEGQAPWVGCGQALHPFPAWSVLLPVGPPKSPRAAQPLLSFRALATQPSSAACILGDEAL
GAQTQAAELWEEPFFPPPPLPAPGELWTSQNQACWKECIQKEATTQVAWKINDGHKYLREGTVPRKQLQQAPSRSALVAG
PVPATSSRDSKEVQVGWPETKGAQNQLSKGVGVQDSPPKGDRVWKARKATQGPAGQTRPESLEMRQVSPRILQLLFPGIS
HDGQGHALDLQARHRLKPEEKFQYPVMSS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000259985 CLINVAR
dbSNP (RS) rs1131335 CLINVAR
MedGen CN239400 CLINVAR
NCBI Gene FLNB CLINVAR
OMIM 603381 CLINVAR