RGD:28868288 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:28868288 -  Homo sapiens

RGD ID: 28868288
RS ID: rs557953001
ClinVar ID: CV870837
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 13 20,762,925
GRCh38 13 20,188,786
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008358.1:g.9190A>C
NM_004004.5:c.*115A>C
NM_004004.6:c.*115A>C
LRG_1350:g.9190A>C
More... 		01/13/2018 3 prime utr variant uncertain significance Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Autosomal dominant nonsyndromic hearing loss 3A; Bart-Pumphrey syndrome; Connexin 26 deafness; Deafness 3 conductive with stapes fixation; Deafness conductive with stapes fixation; Deafness mixed with perilymphatic gusher; Deafness nonsyndromic, Connexin 26 linked; Deafness, autosomal dominant 3a; Deafness, autosomal recessive 1A; Deafness, congenital, with keratopachydermia and constrictions of fingers and toes; Deafness, X-linked 2; Dfn 3 nonsyndromic hearing loss and deafness; DFNB 1 Nonsyndromic Hearing Loss and Deafness; Diffuse palmoplantar keratoderma with deafness (subtype); Focal palmoplantar keratoderma with sensorineural deafness (subtype); GJB6-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness; Gusher syndrome; Hereditary palmoplantar keratoderma with deafness (subtype); HID SYNDROME; Hystrix-like ichthyosis with deafness; Ichthyosis, hystrix-like, with hearing loss; Keratitis-ichthyosis-deafness syndrome, autosomal dominant; Keratoderma hereditarium mutilans; Keratoderma palmoplantar deafness; Keratoderma palmoplantar, with deafness; KID syndrome, autosomal dominant; Knuckle pads, deafness AND leukonychia syndrome; Knuckle pads, leuconychia and sensorineural deafness; Mutilating keratoderma; Nance deafness; Nonsyndromic Hearing Loss and Deafness, DFNB1; Palmoplantar keratoderma and sensorineural deafness; Palmoplantar keratoderma-deafness syndrome; Perilymphatic Gusher-deafness syndrome; Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear; Senter syndrome; X-linked mixed hearing loss with perilymphatic gusher

Variant Details
Variant Transcripts
Gene Symbol:GJB2
Accession:XM_011535049
Location:3UTRS;EXON

Gene Symbol:GJB2
Accession:NM_004004
Location:3UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001112371 CLINVAR
  RCV001112372 CLINVAR
  RCV001113724 CLINVAR
  RCV002491357 CLINVAR
dbSNP (RS) rs557953001 CLINVAR
MedGen C1865234 CLINVAR
  C2673759 CLINVAR
  C2675750 CLINVAR
NCBI Gene GJB2 CLINVAR
OMIM 121011 CLINVAR
  124500 CLINVAR
  148210 CLINVAR
  148350 CLINVAR
  149200 CLINVAR
  220290 CLINVAR
  304400 CLINVAR
  601544 CLINVAR
  602540 CLINVAR
SNOMED CT 24559001 CLINVAR