RGD:405657514 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 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
Advanced Search (OLGA)

Variant: RGD:405657514 -  Homo sapiens

RGD ID: 405657514
ClinVar ID: CV3234986
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALAS2  LOC108663984  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 55,051,149
GRCh38 X 55,024,716
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1163:g.11349T>A
NG_051542.1:g.1060A>T
NG_008983.1:g.11349T>A
NC_000023.11:g.55024716A>T
More... 		06/06/2023 splice donor variant likely pathogenic Anemia, hereditary sideroblastic 1, pyridoxine refractory; Anemia, sideroblastic, 1; ANEMIA, SIDEROBLASTIC, 1, PYRIDOXINE REFRACTORY; Erythroid 5-aminolevulinate synthase deficiency; X chromosome-linked sideroblastic anemia; X-linked pyridoxine-refractory sideroblastic anemia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ALAS2
Accession:NM_000032
Location:INTRON

Gene Symbol:ALAS2
Accession:NM_001037967
Location:INTRON

Gene Symbol:ALAS2
Accession:NM_001037968
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV004017207 CLINVAR
MedGen C4551511 CLINVAR
NCBI Gene ALAS2 CLINVAR
  LOC108663984 CLINVAR
OMIM 300751 CLINVAR
  301300 CLINVAR