RGD:13215091 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:13215091 -  Homo sapiens

RGD ID: 13215091
RS ID: rs1555045177
ClinVar ID: CV429173
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KMT2A  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 118,370,634
GRCh38 11 118,499,919
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001197104.1:c.6158+6T>C
LRG_613t1:c.6158+6T>C
LRG_613:g.68430T>C
NG_027813.1:g.68430T>C
More... 		01/20/2016 intron variant likely pathogenic Growth deficiency and mental retardation with facial dysmorphism
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KMT2A
Accession:XM_047426963
Location:INTRON

Gene Symbol:KMT2A
Accession:NM_001197104
Location:INTRON

Gene Symbol:KMT2A
Accession:XM_006718839
Location:INTRON

Gene Symbol:KMT2A
Accession:XM_011542833
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:KMT2A
Accession:XM_047426964
Location:INTRON

Gene Symbol:KMT2A
Accession:XM_011542830
Location:INTRON

Gene Symbol:KMT2A
Accession:NM_005933
Location:INTRON

Gene Symbol:KMT2A
Accession:XM_011542829
Location:INTRON

Gene Symbol:KMT2A
Accession:NM_001412597
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000502079 CLINVAR
dbSNP (RS) rs1555045177 CLINVAR
MedGen C1854630 CLINVAR
NCBI Gene KMT2A CLINVAR
OMIM 159555 CLINVAR
  605130 CLINVAR