RGD:8598435 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:8598435 -  Homo sapiens

RGD ID: 8598435
RS ID: rs587776726
ClinVar ID: CV25001
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: PIGA  
Reference Nucleotide: -
Variant Nucleotide: AC
Position
Assembly Chr Position
GRCh37 X 15,349,803
GRCh38 X 15,331,681
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
NM_002641.3:c.249_250insGT
LRG_160:g.8857_8858insGT
NG_009786.1:g.8857_8858insGT
NC_000023.11:g.15331681_15331682insAC
More... 		03/02/2012 frameshift variant|intron variant pathogenic adolescence / young adulthood|all ages|childhood 1-9 / 1 000 000 Acquired paroxysmal nocturnal hemoglobinuria
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PIGA
Accession:NM_002641
Location:EXON
Amino Acid Prediction: T to S (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MACRGGAGNGHRASATLSRVSPGSLYTCRTRTHNICMVSDFFYPNMGGVESHIYQLSQCLIERGHKVIIVTHAYGNRKGI
RYLSSGLKVYYLPLKVMYNQSTATTLFHSLPLLRYIFVRERVTIIHSHSSFSAMAHDALFHAKTMGLQTVFTDHSLFGFA
DVSSVLTNKLLTVSLCDTNHIICVSYTSKENTVLRAALNPEIVSVIPNAVDPTDFTPDPFRRHDSITIVVVSRLVYRKGI
DLLSGIIPELCQKYPDLNFIIGGEGPKRIILEEVRERYQLHDRVRLLGALEHKDVRNVLVQGHIFLNTSLTEAFCMAIVE
AASCGLQVVSTRVGGIPEVLPENLIILCEPSVKSLCEGLEKAIFQLKSGTLPAPENIHNIVKTFYTWRNVAERTEKVYDR
VSVEAVLPMDKRLDRLISHCGPVTGYIFALLAVFNFLFLIFLRWMTPDSIIDVAIDATGPRGAWTNNYSHSKRGGENNEI
SETR*

Gene Symbol:PIGA
Accession:NR_033835
Location:EXON;NON-CODING

Gene Symbol:PIGA
Accession:NM_020473
Location:INTRON

Gene Symbol:PIGA
Accession:XM_011545539
Location:INTRON

Gene Symbol:PIGA
Accession:NR_033836
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:8167330  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001799599 CLINVAR
dbSNP (RS) rs587776726 CLINVAR
MedGen C0024790 CLINVAR
NCBI Gene PIGA CLINVAR
OMIM 311770 CLINVAR
OMIM Allele 311770.0006 CLINVAR
SNOMED CT 1963002 CLINVAR