RGD:38473686 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:38473686 -  Homo sapiens

RGD ID: 38473686
RS ID: rs781871487
ClinVar ID: CV917760
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NAA10  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 153,197,807
GRCh38 X 153,932,354
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256120.2:c.285C>A
NM_001256119.2:c.303C>A
NM_003491.4:c.303C>A
NC_000023.11:g.153932354G>T
More... 		02/01/2022 missense variant likely pathogenic|uncertain significance N-terminal acetyltransferase deficiency; none provided
Disease Annotations     Click to see Annotation Detail View
Ogden syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:NAA10
Accession:NM_003491
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNIRNARPEDLMNMQHCNLLCLPENYQMKYYFYHGLSWPQLSYIAEDENGKIVGYVLAKMEEDPDDVPHGHITSLAVKRS
HRRLGLAQKLMDQASRAMIEKFNAKYVSLHVRKSNRAALHLYSNTLNFQISEVEPKYYADGEDAYAMKRDLTQMADELRR
HLELKEKGRHVVLGAIENKVESKGNSPPSSGEACREEKGLAAEDSGGDSKDLSEVSETTESTDVKDSSEASDSAS*

Gene Symbol:NAA10
Accession:NM_001256119
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNIRNARPEDLMNMQHCNLLCLPENYQMKYYFYHGLSWPQLSYIAEDENGKIVGYVLAKMEEDPDDVPHGHITSLAVKRS
HRRLGLAQKLMDQASRAMIEKFNAKYVSLHVRKRISEVEPKYYADGEDAYAMKRDLTQMADELRRHLELKEKGRHVVLGA
IENKVESKGNSPPSSGEACREEKGLAAEDSGGDSKDLSEVSETTESTDVKDSSEASDSAS*

Gene Symbol:NAA10
Accession:NM_001256120
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNIRNARPEDLMNMQHCNLLCLPENYQMKYYFYHGLSWPQLSYIAEDENGKIVGEEDPDDVPHGHITSLAVKRSHRRLGL
AQKLMDQASRAMIEKFNAKYVSLHVRKSNRAALHLYSNTLNFQISEVEPKYYADGEDAYAMKRDLTQMADELRRHLELKE
KGRHVVLGAIENKVESKGNSPPSSGEACREEKGLAAEDSGGDSKDLSEVSETTESTDVKDSSEASDSAS*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001248846 CLINVAR
  RCV002069262 CLINVAR
dbSNP (RS) rs781871487 CLINVAR
MedGen C3275447 CLINVAR
  C3661900 CLINVAR
NCBI Gene NAA10 CLINVAR
OMIM 300013 CLINVAR
  300855 CLINVAR