RGD:21405077 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:21405077 -  Homo sapiens

RGD ID: 21405077
RS ID: rs104894867
ClinVar ID: CV800649
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127897501  NDP  NDP-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 43,809,178
GRCh38 X 43,949,932
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000266.4:c.269G>A
NG_009832.1:g.28744G>A
NR_046631.1:n.201C>T
NC_000023.11:g.43949932C>T
More... 		03/19/2020 missense variant likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance Anderson-Warburg syndrome; Episkopi blindness; Fetal iritis syndrome; none provided; Norrie Disease; Norrie Disease (ND); Norrie syndrome; Norrie-Warburg syndrome; Pseudoglioma
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:NDP
Accession:NM_000266
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKHVLAASFSMLSLLVIMGDTDSKTDSSFIMDSDPRRCMRHHYVDSISHPLYKCSSKMVLLARCEGHCSQASRSEPLVS
FSTVLKQPFLSSCHCCRPQTSKLKALRLRCSGGMRLTATYRYILSCHCEECNS*

Gene Symbol:NDP-AS1
Accession:NR_046631
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:14635119   PMID:25741868   PMID:28492532   PMID:30311386   PMID:31456290  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001003091 CLINVAR
  RCV001306511 CLINVAR
  RCV001375287 CLINVAR
dbSNP (RS) rs104894867 CLINVAR
MedGen C0266526 CLINVAR
  C1384666 CLINVAR
  C3661900 CLINVAR
NCBI Gene NDP CLINVAR
  NDP-AS1 CLINVAR
OMIM 300658 CLINVAR
  310600 CLINVAR
SNOMED CT 15228007 CLINVAR