RGD:15174482 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:15174482 -  Homo sapiens

RGD ID: 15174482
RS ID: rs1569860714
ClinVar ID: CV774553
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLEKHG5  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 6,531,703
GRCh38 1 6,471,643
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001265592.2:c.1243-6G>C
NG_007978.1:g.53367G>C
NC_000001.11:g.6471643C>G
NC_000001.10:g.6531703C>G
More... 		09/10/2018 intron variant likely benign Autosomal recessive lower motor neuron disease with childhood onset; Charcot-Marie-Tooth disease recessive intermediate C; CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE C; Distal spinal muscular atrophy, autosomal recessive 4; NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 4
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PLEKHG5
Accession:NM_001265592
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_001042663
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_001042664
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_020631
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_001042665
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_001265594
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_198681
Location:INTRON

Gene Symbol:PLEKHG5
Accession:NM_001265593
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001470234 CLINVAR
dbSNP (RS) rs1569860714 CLINVAR
MedGen C1970211 CLINVAR
NCBI Gene PLEKHG5 CLINVAR
OMIM 611067 CLINVAR
  611101 CLINVAR
  615376 CLINVAR