RGD:15040353 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:15040353 -  Homo sapiens

RGD ID: 15040353
RS ID: rs104886033
ClinVar ID: CV682818
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DHCR7  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 71,155,998
GRCh38 11 71,444,952
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001360.3:c.1A>C
NP_001351.2:p.Met1Leu
NM_001163817.2:c.1A>C
NG_012655.2:g.8480A>C
More... 		initiatior codon variant|initiator_codon_variant pathogenic 7-Dehydrocholesterol reductase deficiency; LETHAL ACRODYSGENITAL SYNDROME; POLYDACTYLY, SEX REVERSAL, RENAL HYPOPLASIA, AND UNILOBAR LUNG; RSH syndrome; RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME; SLO syndrome type 1; Smith-Lemli-Opitz syndrome type 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DHCR7
Accession:NM_001163817
Location:EXON

Gene Symbol:DHCR7
Accession:XM_011544777
Location:EXON

Gene Symbol:DHCR7
Accession:NM_001360
Location:EXON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000856756 CLINVAR
dbSNP (RS) rs104886033 CLINVAR
MedGen C0175694 CLINVAR
NCBI Gene DHCR7 CLINVAR
OMIM 270400 CLINVAR
  602858 CLINVAR
SNOMED CT 43929004 CLINVAR