rs150299874 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: rs150299874 -  Homo sapiens

RGD ID: 12849914
RS ID: rs150299874
ClinVar ID: CV376074
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: L2HGDH  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 50,769,619
GRCh38 14 50,302,901
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NG_008092.1:g.14329G>A
NC_000014.9:g.50302901C>T
NC_000014.8:g.50769619C>T
NM_024884.3:c.256+1G>A
More... 		09/13/2022 splice donor variant pathogenic|likely pathogenic none provided
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV376074HumanL-2-hydroxyglutaric aciduria  IAGP 8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:16134148 more ...

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV376074HumanL-2-hydroxyglutaric aciduria  IAGP 8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:16134148 more ...
Gene Symbol:L2HGDH
Accession:NM_001425217
Location:5UTRS;INTRON

Gene Symbol:L2HGDH
Accession:NM_001425218
Location:5UTRS;INTRON

Gene Symbol:L2HGDH
Accession:NM_001425216
Location:5UTRS;INTRON

Gene Symbol:L2HGDH
Accession:NM_001425215
Location:5UTRS;INTRON

Gene Symbol:L2HGDH
Accession:NM_024884
Location:INTRON

Gene Symbol:L2HGDH
Accession:XM_011537167
Location:INTRON

Gene Symbol:L2HGDH
Accession:XM_011537168
Location:INTRON

Gene Symbol:L2HGDH
Accession:XM_017021655
Location:INTRON

Gene Symbol:L2HGDH
Accession:NM_001425212
Location:INTRON

Gene Symbol:L2HGDH
Accession:NM_001425213
Location:INTRON

Gene Symbol:L2HGDH
Accession:NM_001425214
Location:INTRON

Gene Symbol:L2HGDH
Accession:XR_007064047
Location:INTRON;NON-CODING

Gene Symbol:L2HGDH
Accession:XR_007064046
Location:INTRON;NON-CODING

.
PMID:16134148   PMID:16199547   PMID:20052767   PMID:25741868   PMID:28492532   PMID:32626804  



Database
Acc Id
Source(s)
ClinVar RCV000438376 CLINVAR
  RCV000763339 CLINVAR
dbSNP (RS) rs150299874 CLINVAR
MedGen C1855995 CLINVAR
  C3661900 CLINVAR
NCBI Gene L2HGDH CLINVAR
OMIM 236792 CLINVAR
  609584 CLINVAR