RGD:8598028 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:8598028 -  Homo sapiens

RGD ID: 8598028
RS ID: rs137852771
ClinVar ID: CV23771
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GAREM2  HADHA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 26,417,450
GRCh38 2 26,194,581
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
NG_007121.1:g.55040C>T
NC_000002.12:g.26194581G>A
NC_000002.11:g.26417450G>A
NP_000173.2:p.Arg560Ter
More... 		01/26/2022 nonsense|stop-gain pathogenic neonatal/infancy <1 / 1 000 000 Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase; LCHAD Deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:HADHA
Accession:NM_000182
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 560
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVACRAIGILSRFSAFRILRSRGYICRNFTGSSALLTRTHINYGVKGDVAVVRINSPNSKVNTLSKELHSEFSEVMNEIW
ASDQIRSAVLISSKPGCFIAGADINMLAACKTLQEVTQLSQEAQRIVEKLEKSTKPIVAAINGSCLGGGLEVAISCQYRI
ATKDRKTVLGTPEVLLGALPGAGGTQRLPKMVGVPAALDMMLTGRSIRADRAKKMGLVDQLVEPLGPGLKPPEERTIEYL
EEVAITFAKGLADKKISPKRDKGLVEKLTAYAMTIPFVRQQVYKKVEEKVRKQTKGLYPAPLKIIDVVKTGIEQGSDAGY
LCESQKFGELVMTKESKALMGLYHGQVLCKKNKFGAPQKDVKHLAILGAGLMGAGIAQVSVDKGLKTILKDATLTALDRG
QQQVFKGLNDKVKKKALTSFERDSIFSNLTGQLDYQGFEKADMVIEAVFEDLSLKHRVLKEVEAVIPDHCIFASNTSALP
ISEIAAVSKRPEKVIGMHYFSPVDKMQLLEIITTEKTSKDTSASAVAVGLKQGKVIIVVKDGPGFYTTRCLAPMMSEVIR
ILQEGVDPKKLDSLTTSFGFPVGAATLVDEVGVDVAKHVAEDLGKVFGERFGGGNPELLTQMVSKGFLGRKSGKGFYIYQ
EGVKRKDLNSDMDSILASLKLPPKSEVSSDEDIQFRLVTRFVNEAVMCLQEGILATPAEGDIGAVFGLGFPPCLGGPFRF
VDLYGAQKIVDRLKKYEAAYGKQFTPCQLLADHANSPNKKFYQ*

Gene Symbol:GAREM2
Accession:NM_001191033
Location:INTRON

Gene Symbol:GAREM2
Accession:XM_011532566
Location:INTRON

Gene Symbol:GAREM2
Accession:XM_006711951
Location:INTRON

Gene Symbol:GAREM2
Accession:XM_011532565
Location:INTRON

Gene Symbol:GAREM2
Accession:XM_011532564
Location:INTRON

Gene Symbol:GAREM2
Accession:NM_001168241
Location:INTRON

Gene Symbol:GAREM2
Accession:XM_011532567
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:7738175   PMID:8865274   PMID:21103935   PMID:21549624   PMID:22459206   PMID:25741868   PMID:27491397   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000009271 CLINVAR
  RCV000820848 CLINVAR
  RCV001729343 CLINVAR
dbSNP (RS) rs137852771 CLINVAR
MedGen C1969443 CLINVAR
  C3711645 CLINVAR
NCBI Gene GAREML CLINVAR
  HADHA CLINVAR
OMIM 600890 CLINVAR
  609016 CLINVAR
  617999 CLINVAR
OMIM Allele 600890.0005 CLINVAR
SNOMED CT 237999008 CLINVAR