RGD:405018370 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: RGD:405018370 -  Homo sapiens

RGD ID: 405018370
ClinVar ID: CV2945407
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: G6PC3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 42,151,546
GRCh38 17 44,074,178
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_182t1:c.237G>A
NM_001384165.1:c.-109G>A
NM_001384166.1:c.-109G>A
NM_001384167.1:c.-109G>A
More... 		09/08/2023 5 prime utr variant likely benign Dursun syndrome; PULMONARY ARTERIAL HYPERTENSION, LEUKOPENIA, AND ATRIAL SEPTAL DEFECT; Severe congenital neutropenia 4, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:G6PC3
Accession:NM_001384167
Location:5UTRS;EXON

Gene Symbol:G6PC3
Accession:XM_011525474
Location:5UTRS;EXON

Gene Symbol:G6PC3
Accession:NM_001384166
Location:5UTRS;EXON

Gene Symbol:G6PC3
Accession:NM_001384168
Location:5UTRS;EXON

Gene Symbol:G6PC3
Accession:NM_001384165
Location:5UTRS;EXON

Gene Symbol:G6PC3
Accession:NM_001319945
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESTLGAGIVIAEALQNQLAWLENVWLWITFLGDPKILFLFYFPAAYYASRRVGIAVLWISLITEWLNLIFKWFLFGDRP
FWWVHESGYYSQAPAQVHQFPSSCETGPGSPSGHCMITGAALWPIMTALSSQVATRARRRCPGLADDSPSAYGAGAKLLW
VDCTGPHARHQPHLLDPLYTGPGSFLVHQPSLQVV*

Gene Symbol:G6PC3
Accession:NM_138387
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESTLGAGIVIAEALQNQLAWLENVWLWITFLGDPKILFLFYFPAAYYASRRVGIAVLWISLITEWLNLIFKWFLFGDRP
FWWVHESGYYSQAPAQVHQFPSSCETGPGSPSGHCMITGAALWPIMTALSSQVATRARSRWVRVMPSLAYCTFLLAVGLS
RIFILAHFPHQVLAGLITGAVLGWLMTPRVPMERELSFYGLTALALMLGTSLIYWTLFTLGLDLSWSISLAFKWCERPEW
IHVDSRPFASLSRDSGAALGLGIALHSPCYAQVRRAQLGNGQKIACLVLAMGLLGPLDWLGHPPQISLFYIFNFLKYTLW
PCLVLALVPWAVHMFSAQEAPPIHSS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003600623 CLINVAR
MedGen C2751630 CLINVAR
NCBI Gene G6PC3 CLINVAR
OMIM 611045 CLINVAR
  612541 CLINVAR