RGD:8570716 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:8570716 -  Homo sapiens

RGD ID: 8570716
RS ID: rs587776943
ClinVar ID: CV48565
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126862983  MGME1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 17,950,958
GRCh38 20 17,970,315
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
NC_000020.11:g.17970315G>A
NC_000020.10:g.17950958G>A
NP_443097.1:p.Trp152Ter
NM_052865.2:c.456G>A
More... 		01/17/2020 2kb upstream variant|intron variant|nonsense pathogenic|likely pathogenic all ages|variable <1 / 1 000 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MGME1
Accession:XM_011529394
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMKLFQTICRQLRSSKFSVESAALVAFSTSSYSCGRKKKVNPYEEVDQEKYSNLVQSVLSSRGVAQTPGSVEEDALLCG
PVSKHKLPNQGEDRRVPQNWFPIFNPERSDKPNASDPSVPLKIPLQRNVIPSVTRVLQQTMTKQQVFLLER*KQRMILEL
GEDGFKEYTSSFHVCDHVYMKNLARDVFLQGKRFHEALESILSPQETLKERDENLLKSGYIESVQHILKDVSGVRALESA
VQHETLNYIGLLDCVAEYQGKLCVIDWKTSEKPKPFIQSTFDNPLQVVAYMGAMNHDTNYSFQVQCGLIVVAYKDGSPAH
PHFMDAELCSQYWTKWLLRLEEYTEKKKNQNIQKPEYSE*

Gene Symbol:MGME1
Accession:XM_006723663
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMKLFQTICRQLRSSKFSVESAALVAFSTSSYSCGRKKKVNPYEEVDQEKYSNLVQSVLSSRGVAQTPGSVEEDALLCG
PVSKHKLPNQGEDRRVPQNWFPIFNPERSDKPNASDPSVPLKIPLQRNVIPSVTRVLQQTMTKQQVFLLER*KQRMILEL
GEDGFKEYTSSFHVCDHVYMKNLARDVFLQGKRFHEALESILSPQETLKERDENLLKSGYIESVQHILKDVSGVRALESA
VQHETLNYIGLLDCVAEYQFNVA*

Gene Symbol:MGME1
Accession:XM_047440585
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMKLFQTICRQLRSSKFSVESAALVAFSTSSYSCGRKKKVNPYEEVDQEKYSNLVQSVLSSRGVAQTPGSVEEDALLCG
PVSKHKLPNQGEDRRVPQNWFPIFNPERSDKPNASDPSVPLKIPLQRNVIPSVTRVLQQTMTKQQVFLLER*KQRMILEL
GEDGFKEYTSNVFLQGKRFHEALESILSPQETLKERDENLLKSGYIESVQHILKDVSGVRALESAVQHETLNYIGLLDCV
AEYQFNVA*

Gene Symbol:MGME1
Accession:NM_052865
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMKLFQTICRQLRSSKFSVESAALVAFSTSSYSCGRKKKVNPYEEVDQEKYSNLVQSVLSSRGVAQTPGSVEEDALLCG
PVSKHKLPNQGEDRRVPQNWFPIFNPERSDKPNASDPSVPLKIPLQRNVIPSVTRVLQQTMTKQQVFLLER*KQRMILEL
GEDGFKEYTSNVFLQGKRFHEALESILSPQETLKERDENLLKSGYIESVQHILKDVSGVRALESAVQHETLNYIGLLDCV
AEYQGKLCVIDWKTSEKPKPFIQSTFDNPLQVVAYMGAMNHDTNYSFQVQCGLIVVAYKDGSPAHPHFMDAELCSQYWTK
WLLRLEEYTEKKKNQNIQKPEYSE*

Gene Symbol:MGME1
Accession:NM_001310338
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMKLFQTICRQLRSSKFSVESAALVAFSTSSYSCGRKKKVNPYEEVDQEKYSNLVQSVLSSRGVAQTPGSVEEDALLCG
PVSKHKLPNQGEDRRVPQNWFPIFNPERSDKPNASDPSVPLKIPLQRNVIPSVTRVLQQTMTKQQVFLLER*KQRMILEL
GEDGFKEYTSSFHVCDHVYMKNLARDVFLQGKRFHEALESILSPQETLKERDENLLKSGYIESVQHILKDVSGVRALESA
VQHETLNYIGLLDCVAEYQGKLCVIDWKTSEKPKPFIQSTFDNPLQVVAYMGAMNHDTNYSFQVQCGLIVVAYKDGSPAH
PHFMDAELCSQYWTKWLLRLEEYTEKKKNQNIQKPEYSE*

Gene Symbol:MGME1
Accession:XM_005260867
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMKLFQTICRQLRSSKFSVESAALVAFSTSSYSCGRKKKVNPYEEVDQEKYSNLVQSVLSSRGVAQTPGSVEEDALLCG
PVSKHKLPNQGEDRRVPQNWFPIFNPERSDKPNASDPSVPLKIPLQRNVIPSVTRVLQQTMTKQQVFLLER*KQRMILEL
GEDGFKEYTSSFHVCDHVYMKNLARDVFLQGKRFHEALESILSPQETLKERDENLLKSGYIESVQHILKDVSGVRALESA
VQHETLNYIGLLDCVAEYQGKLCVIDWKTSEKPKPFIQSTFDNPLQVVAYMGAMNHDTNYSFQVQCGLIVVAYKDGSPAH
PHFMDAELCSQYWTKWLLRLEEYTEKKKNQNIQKPEYSE*

Gene Symbol:MGME1
Accession:XM_047440586
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMKLFQTICRQLRSSKFSVESAALVAFSTSSYSCGRKKKVNPYEEVDQEKYSNLVQSVLSSRGVAQTPGSVEEDALLCG
PVSKHKLPNQGEDRRVPQNWFPIFNPERSDKPNASDPSVPLKIPLQRNVIPSVTRVLQQTMTKQQVFLLER*KQRMILEL
GEDGFKEYTSNVFLQGKRFHEALESILSPQETLKERDENLLKSGYIESVQHILKDVSGVRALESAVQHETLNYIGLLDCV
AEYQFNVA*

Gene Symbol:MGME1
Accession:NM_001310339
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMKLFQTICRQLRSSKFSVESAALVAFSTSSYSCGRKKKVNPYEEVDQEKYSNLVQSVLSSRGVAQTPGSVEEDALLCG
PVSKHKLPNQGEDRRVPQNWFPIFNPERSDKPNASDPSVPLKIPLQRNVIPSVTRVLQQTMTKQQVFLLER*KQRMILEL
GEDGFKEYTSSSMWLNCGGLQRWITCPPTFHGCRALFPVLDQVASSTRRIYGKEKEPEYSETRIFRIGSKLLFGNIQHLL
TVWEHILLFTPV*

Gene Symbol:MGME1
Accession:XM_017028127
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMKLFQTICRQLRSSKFSVESAALVAFSTSSYSCGRKKKVNPYEEVDQEKYSNLVQSVLSSRGVAQTPGSVEEDALLCG
PVSKHKLPNQGEDRRVPQNWFPIFNPERSDKPNASDPSVPLKIPLQRNVIPSVTRVLQQTMTKQQVFLLER*KQRMILEL
GEDGFKEYTSNVFLQGKRFHEALESILSPQETLKERDENLLKSGYIESVQHILKDVSGVRALESAVQHETLNYIGLLDCV
AEYQGKLCVIDWKTSEKPKPFIQSTFDNPLQVVAYMGAMNHDTNYSFQVQCGLIVVAYKDGSPAHPHFMDAELCSQYWTK
WLLRLEEYTEKKKNQNIQKPEYSE*

Gene Symbol:MGME1
Accession:XM_017028128
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMKLFQTICRQLRSSKFSVESAALVAFSTSSYSCGRKKKVNPYEEVDQEKYSNLVQSVLSSRGVAQTPGSVEEDALLCG
PVSKHKLPNQGEDRRVPQNWFPIFNPERSDKPNASDPSVPLKIPLQRNVIPSVTRVLQQTMTKQQVFLLER*KQRMILEL
GEDGFKEYTSNVFLQGKRFHEALESILSPQETLKERDENLLKSGYIESVQHILKDVSGVRALESAVQHETLNYIGLLDCV
AEYQGKLCVIDWKTSEKPKPFIQSTFDNPLQVVAYMGAMNHDTNYSFQVQCGLIVVAYKDGSPAHPHFMDAELCSQYWTK
WLLRLEEYTEKKKNQNIQKPEYSE*

Gene Symbol:MGME1
Accession:XM_047440584
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMKLFQTICRQLRSSKFSVESAALVAFSTSSYSCGRKKKVNPYEEVDQEKYSNLVQSVLSSRGVAQTPGSVEEDALLCG
PVSKHKLPNQGEDRRVPQNWFPIFNPERSDKPNASDPSVPLKIPLQRNVIPSVTRVLQQTMTKQQVFLLER*KQRMILEL
GEDGFKEYTSSFHVCDHVYMKNLARDVFLQGKRFHEALESILSPQETLKERDENLLKSGYIESVQHILKDVSGVRALESA
VQHETLNYIGLLDCVAEYQFNVA*

Gene Symbol:MGME1
Accession:XM_005260870
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMKLFQTICRQLRSSKFSVESAALVAFSTSSYSCGRKKKVNPYEEVDQEKYSNLVQSVLSSRGVAQTPGSVEEDALLCG
PVSKHKLPNQGEDRRVPQNWFPIFNPERSDKPNASDPSVPLKIPLQRNVIPSVTRVLQQTMTKQQVFLLER*KQRMILEL
GEDGFKEYTSNVFLQGKRFHEALESILSPQETLKERDENLLKSGYIESVQHILKDVSGVRALESAVQHETLNYIGLLDCV
AEYQFNVA*

Gene Symbol:MGME1
Accession:XM_047440582
Location:INTRON

Gene Symbol:MGME1
Accession:NM_001363738
Location:INTRON

Gene Symbol:MGME1
Accession:XM_047440583
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:23313956   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000033150 CLINVAR
dbSNP (RS) rs587776943 CLINVAR
MedGen C3554462 CLINVAR
NCBI Gene LOC126862983 CLINVAR
  MGME1 CLINVAR
OMIM 615076 CLINVAR
  615084 CLINVAR
OMIM Allele 615076.0001 CLINVAR