RGD:8624514 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:8624514 -  Homo sapiens

RGD ID: 8624514
RS ID: rs121908277
ClinVar ID: CV79624
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: INS  INS-IGF2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 2,181,107
GRCh38 11 2,159,877
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_007114.1:g.6318A>G
NC_000011.10:g.2159877T>C
NC_000011.9:g.2181107T>C
NP_000198.1:p.Tyr103Cys
More... 		11/06/2021 intron|intron variant|missense|missense variant likely pathogenic|likely risk allele|uncertain significance|not provided neonatal/infancy the estimated incidence of permanent neonatal diabetes ranges from 1:215,000 to 1:260,000 live births none provided; Permanent diabetes mellitus of infancy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:INS
Accession:NM_001291897
Location:EXON
Amino Acid Prediction: Y to S (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALWMRLLPLLALLALWGPDPAAAFVNQHLCGSHLVEALYLVCGERGFFYTPKTRREAEDLQVGQVELGGGPGAGSLQPL
ALEGSLQKRGIVEQCCTSICSLSQLENYCN*

Gene Symbol:INS
Accession:NM_000207
Location:EXON
Amino Acid Prediction: Y to S (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALWMRLLPLLALLALWGPDPAAAFVNQHLCGSHLVEALYLVCGERGFFYTPKTRREAEDLQVGQVELGGGPGAGSLQPL
ALEGSLQKRGIVEQCCTSICSLSQLENYCN*

Gene Symbol:INS
Accession:NM_001185098
Location:EXON
Amino Acid Prediction: Y to S (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALWMRLLPLLALLALWGPDPAAAFVNQHLCGSHLVEALYLVCGERGFFYTPKTRREAEDLQVGQVELGGGPGAGSLQPL
ALEGSLQKRGIVEQCCTSICSLSQLENYCN*

Gene Symbol:INS
Accession:NM_001185097
Location:EXON
Amino Acid Prediction: Y to S (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALWMRLLPLLALLALWGPDPAAAFVNQHLCGSHLVEALYLVCGERGFFYTPKTRREAEDLQVGQVELGGGPGAGSLQPL
ALEGSLQKRGIVEQCCTSICSLSQLENYCN*

Gene Symbol:INS-IGF2
Accession:NM_001042376
Location:INTRON

Gene Symbol:INS-IGF2
Accession:NR_003512
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:18162506   PMID:20724178   PMID:20938745   PMID:25542748   PMID:25741868   PMID:28492532   PMID:30191644  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000059614 CLINVAR
  RCV001854250 CLINVAR
  RCV003389039 CLINVAR
dbSNP (RS) rs121908277 CLINVAR
MedGen C1833104 CLINVAR
  C3661900 CLINVAR
  C5394307 CLINVAR
NCBI Gene INS CLINVAR
  INS-IGF2 CLINVAR
OMIM 176730 CLINVAR
  606176 CLINVAR
  618858 CLINVAR