RGD:156352545 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:156352545 -  Homo sapiens

RGD ID: 156352545
ClinVar ID: CV2190469
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSAP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 73,579,460
GRCh38 10 71,819,703
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002778.4:c.1192+11G>A
NM_001042466.3:c.1198+11G>A
NM_001042465.3:c.1201+11G>A
NG_009301.1:g.36623G>A
More... 		05/07/2022 intron variant likely benign Metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency; Metachromatic leukodystrophy due to saposin B deficiency; Saposin B Deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PSAP
Accession:NM_002778
Location:INTRON

Gene Symbol:PSAP
Accession:NM_001042466
Location:INTRON

Gene Symbol:PSAP
Accession:NM_001042465
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003048444 CLINVAR
MedGen C0268262 CLINVAR
NCBI Gene PSAP CLINVAR
OMIM 176801 CLINVAR
  249900 CLINVAR
SNOMED CT 68390005 CLINVAR