RGD:14393367 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:14393367 -  Homo sapiens

RGD ID: 14393367
RS ID: rs1561417568
ClinVar ID: CV609197
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOX  SRFBP1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 121,406,276
GRCh38 5 122,070,581
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001317073.1:c.153T>A
NM_001178102.2:c.354T>A
NP_001171573.1:p.Ser118Arg
NG_008722.1:g.12780T>A
More... 		10/13/2022 missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided Acute aortic dissection; Annuloaortic ectasia; AORTIC ANEURYSM, FAMILIAL THORACIC 1; Aortic aneurysm, thoracic; Familial aortic dissection; Familial thoracic aortic aneurysm; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:LOX
Accession:NM_002317
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 348
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRFAWTVLLLGPLQLCALVHCAPPAAGQQQPPREPPAAPGAWRQQIQWENNGQVFSLLSLGSQYQPQRRRDPGAAVPGAA
NASAQQPRTPILLIRDNRTAAARTRTAGSSGVTAGRPRPTARHWFQAGYSTSRAREAGASRAENQTAPGEVPALSNLRPP
SRVDGMVGDDPYNPYKYSDDNPYYNYYDTYERPRPGGRYRPGYGTGYFQYGLPDLVADPYYIQASTYVQKMSMYNLRCAA
EENCLASTAYRADVRDYDHRVLLRFPQRVKNQGTSDFLPSRPRYSWEWHSCHQHYHSMDEFSHYDLLDANTQRRVAEGHK
ASFCLEDTSCDYGYHRRFACTAHTQGLSPGCYDTYGADIDCQWIDITDVKPGNYILKVSVNPSYLVPESDYTNNVVRCDI
RYTGHHAYASGCTISPY*

Gene Symbol:LOX
Accession:NM_001178102
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMYNLRCAAEENCLASTAYRADVRDYDHRVLLRFPQRVKNQGTSDFLPSRPRYSWEWHSCHQHYHSMDEFSHYDLLDAN
TQRRVAEGHKASFCLEDTSCDYGYHRRFACTAHTQGLSPGCYDTYGADIDCQWIDITDVKPGNYILKVSVNPSYLVPESD
YTNNVVRCDIRYTGHHAYASGCTISPY*

Gene Symbol:LOX
Accession:NM_001317073
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDEFSHYDLLDANTQRRVAEGHKASFCLEDTSCDYGYHRRFACTAHTQGLSPGCYDTYGADIDCQWIDITDVKPGNYILK
VSVNPSYLVPESDYTNNVVRCDIRYTGHHAYASGCTISPY*

Gene Symbol:SRFBP1
Accession:XM_017009111
Location:INTRON

Gene Symbol:SRFBP1
Accession:NM_152546
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:26838787   PMID:28492532   PMID:31211696   PMID:31459939  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000755145 CLINVAR
  RCV001592940 CLINVAR
  RCV002397522 CLINVAR
  RCV003227848 CLINVAR
dbSNP (RS) rs1561417568 CLINVAR
MedGen C0345050 CLINVAR
  C3661900 CLINVAR
  C4284414 CLINVAR
  CN230736 CLINVAR
NCBI Gene LOX CLINVAR
  SRFBP1 CLINVAR
OMIM 153455 CLINVAR
  607086 CLINVAR
  610479 CLINVAR
  617168 CLINVAR
SNOMED CT 253646008 CLINVAR