RGD:405185154 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:405185154 -  Homo sapiens

RGD ID: 405185154
ClinVar ID: CV3152870
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AMN  LOC130056554  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 103,396,472
GRCh38 14 102,930,135
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_030943.4:c.1007-30G>C
LRG_642:g.12480G>C
NG_008276.2:g.12480G>C
NG_190975.1:g.218G>C
More... 		01/13/2024 intron variant likely benign Enterocyte cobalamin malabsorption; Enterocyte intrinsic factor receptor, defect of; Imerslund-Gräsbeck syndrome; Megaloblastic anemia due to inborn errors of metabolism; Pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AMN
Accession:NM_030943
Location:INTRON

Gene Symbol:AMN
Accession:NM_001425246
Location:INTRON

Gene Symbol:AMN
Accession:XM_011537203
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003842861 CLINVAR
MedGen C4551825 CLINVAR
NCBI Gene AMN CLINVAR
  LOC130056554 CLINVAR
OMIM 605799 CLINVAR
SNOMED CT 34925000 CLINVAR