RGD:8574328 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:8574328 -  Homo sapiens

RGD ID: 8574328
RS ID: rs140130028
ClinVar ID: CV106599
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NPC2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 74,947,404
GRCh38 14 74,480,701
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_007117.1:g.17681G>A
NC_000014.9:g.74480701C>T
NC_000014.8:g.74947404C>T
NM_006432.4:c.441+1G>A
More... 		06/01/2021 2kb upstream variant|intron variant|missense variant|splice donor variant pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance all ages|variable 1-9 / 100 000 AllHighlyPenetrant; Neurovisceral storage disease with vertical supranuclear ophthalmoplegia; Niemann-Pick disease with cholesterol esterification block; NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY; Niemann-Pick disease, chronic neuronopathic form; NIEMANN-PICK DISEASE, VARIANT TYPE C1; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NPC2
Accession:NM_001363688
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 148
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRFLAATFLLLALSTAAQAEPVQFKDCGSVDGVIKEVNVSPCPTQPCQLSKGQSYSVNVTFTSNIQSKSSKAVVHGILMG
VPVPFPIPEPDGCKSGINCPIQKDKTYSYLNKLPVKSEYPSIKLVVEWQLQDDKNQSLFCWEIPVQILSLSGGERAWVEG
RKWRRNQTETKSVP*

Gene Symbol:NPC2
Accession:NM_006432
Location:INTRON

Gene Symbol:NPC2
Accession:NM_001375440
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:23352160   PMID:23773996   PMID:24386122   PMID:24767253   PMID:25741868   PMID:25764212   PMID:26981555   PMID:27792009   PMID:28492532   PMID:29431110   PMID:29928259   PMID:30060175  
PMID:30548430   PMID:33848968   PMID:34420959   PMID:36140389   PMID:36199823  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000087100 CLINVAR
  RCV000153589 CLINVAR
  RCV001121868 CLINVAR
  RCV002281928 CLINVAR
  RCV003935083 CLINVAR
dbSNP (RS) rs140130028 CLINVAR
MedGen C1843366 CLINVAR
  C3179455 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ACYP1 CLINVAR
  NPC2 CLINVAR
OMIM 257220 CLINVAR
  600875 CLINVAR
  601015 CLINVAR
  607625 CLINVAR