RGD:13611908 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:13611908 -  Homo sapiens

RGD ID: 13611908
RS ID: rs1557055311
ClinVar ID: CV514125
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCD1  LOC127898490  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 153,008,674
GRCh38 X 153,743,220
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000033.4:c.1866-1G>C
NM_000033.3:c.1866-1G>C
NG_009022.2:g.23353G>C
NC_000023.10:g.153008674G>C
More... 		10/23/2019 splice acceptor variant likely pathogenic ADDISON DISEASE AND CEREBRAL SCLEROSIS; BRONZE SCHILDER DISEASE; Episodic fever; Episodic vomiting; Frequent vomiting; MELANODERMIC LEUKODYSTROPHY; Myocarditis; Recurrent fever; SIEMERLING-CREUTZFELDT DISEASE
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:ABCD1
Accession:XM_047441916
Location:INTRON

Gene Symbol:ABCD1
Accession:NM_000033
Location:INTRON

Gene Symbol:ABCD1
Accession:XM_047441917
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:11748843   PMID:16199547   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000626569 CLINVAR
  RCV001243822 CLINVAR
dbSNP (RS) rs1557055311 CLINVAR
MedGen C0014038 CLINVAR
  C0162309 CLINVAR
NCBI Gene ABCD1 CLINVAR
OMIM 300100 CLINVAR
  300371 CLINVAR
SNOMED CT 65389002 CLINVAR