RGD:13479113 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:13479113 -  Homo sapiens

RGD ID: 13479113
RS ID: rs1554371125
ClinVar ID: CV457335
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FKBP14  FKBP14-AS1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 30,066,075
GRCh38 7 30,026,459
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_454:g.5343T>C
NG_032173.1:g.5343T>C
NC_000007.13:g.30066075A>G
NP_060416.1:p.Leu17Ser
More... 		06/09/2017 missense variant uncertain significance Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FKBP14
Accession:NM_017946
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLFLWNAVLTLFVTSSIGALIPEPEVKIEVLQKPFICHRKTKGGDLMLVHYEGYLEKDGSLFHSTHKHNNGQPIWFTLG
ILEALKGWDQGLKGMCVGEKRKLIIPPALGYGKEGKGKIPPESTLIFNIDLLEIRNGPRSHESFQEMDLNDDWKLSKDEV
KAYLKKEFEKHGAVVNESHHDALVEDIFDKEDEDKDGFISAREFTYKHDEL*

Gene Symbol:FKBP14
Accession:XM_047420550
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLFLWNAVLTLFVTSSIGALIPEPEVKIEVLQKPFICHRKTKGGDLMLVHYEGYLEKDGSLFHSTHKHNNGQPIWFTLG
ILEALKGWDQGLKGMCVGEKRKLIIPPALGYGKEGKGKIPPESTLIFNIDLLEIRNGPRSHESFQEMDLNDDWKLSKDEN
YLQHTPVEECSSRFRRKKKNDSSSQPWWLTPVISTLPEAKEGGSLELRSLRPAWAT*

Gene Symbol:FKBP14
Accession:NR_046478
Location:EXON;NON-CODING

Gene Symbol:FKBP14-AS1
Accession:NR_187577
Location:EXON;NON-CODING

Gene Symbol:FKBP14
Accession:NR_046479
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000527938 CLINVAR
  RCV002530204 CLINVAR
dbSNP (RS) rs1554371125 CLINVAR
MedGen C0950123 CLINVAR
  C3281160 CLINVAR
NCBI Gene FKBP14 CLINVAR
  FKBP14-AS1 CLINVAR
OMIM 614505 CLINVAR
  614557 CLINVAR