rs749455172 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: rs749455172 -  Homo sapiens

RGD ID: 150546675
RS ID: rs749455172
ClinVar ID: CV1291593
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ETFA  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 76,578,780
GRCh38 15 76,286,439
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NC_000015.10:g.76286439A>G
NM_001127716.2:c.347T>C
NM_000126.4:c.494T>C
NG_007077.2:g.30031T>C
More... 		03/13/2024 missense variant likely pathogenic|uncertain significance AllHighlyPenetrant; Ethylmalonic-adipicaciduria; GA 2; GA II; Glutaric acidemia type 2; Glutaric acidemia type II; Glutaric aciduria, type 2
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1291593Humanmultiple acyl-CoA dehydrogenase deficiency  IAGP 8554872ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiencyClinVarPMID:16510302|PMID:20674745|PMID:25200064|PMID:25741868|PMID:33450351
Gene Symbol:ETFA
Accession:NM_001127716
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFRAAAPGQLRRAVAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEV
APISDIIAIKSPDTFVRTIYAGNALCTVKCDEKVKAFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDR
PELTGAKVVVSGGRGLKSGENFKLLYDLADQLHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAG
MKDSKTIVAINKDPEAPIFQVADYGIVADLFKVVPEMTEILKKK*

Gene Symbol:ETFA
Accession:NM_000126
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 165
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFRAAAPGQLRRAASLLRFQSTLVIAEHANDSLAPITLNTITAATRLGGEVSCLVAGTKCDKVAQDLCKVAGIAKVLVAQ
HDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCD
EKVKAFSVRGTSFDAAATSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGGRGLKSGENFKLLYDLADQ
LHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKTIVAINKDPEAPIFQVADYGIVADLF
KVVPEMTEILKKK*

Gene Symbol:ETFA
Accession:XR_007064434
Location:EXON;NON-CODING

.
PMID:16510302   PMID:20674745   PMID:25200064   PMID:25741868   PMID:33450351  



1 to 9 of 9 rows
Database
Acc Id
Source(s)
ClinVar RCV001733357 CLINVAR
  RCV004571073 CLINVAR
dbSNP (RS) rs749455172 CLINVAR
MedGen C0268596 CLINVAR
  CN169374 CLINVAR
NCBI Gene ETFA CLINVAR
OMIM 231680 CLINVAR
  608053 CLINVAR
SNOMED CT 22886006 CLINVAR
1 to 9 of 9 rows