RGD:8607576 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:8607576 -  Homo sapiens

RGD ID: 8607576
RS ID: rs111033299
ClinVar ID: CV53902
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 20,763,438
GRCh38 13 20,189,299
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_008358.1:g.8677G>A
NC_000013.11:g.20189299C>T
NC_000013.10:g.20763438C>T
NP_003995.2:p.Val95Met
More... 		12/27/2018 missense|missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity neonatal/infancy congenital deafness affects 1 in 1,000 births 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; Non-syndromic genetic deafness; none provided; Nonsyndromic genetic deafness; Nonsyndromic hearing loss and 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
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GJB2
Accession:NM_004004
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGCKNVCYDHYFPISHIRLWALQ
LIFVSTPALLVAMHMAYRRHEKKRKFIKGEIKSEFKDIEEIKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDG
FSMQRLVKCNAWPCPNTVDCFVSRPTEKTVFTVFMIAVSGICILLNVTELCYLLIRYCSGKSKKPV*

Gene Symbol:GJB2
Accession:XM_011535049
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGCKNVCYDHYFPISHIRLWALQ
LIFVSTPALLVAMHMAYRRHEKKRKFIKGEIKSEFKDIEEIKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDG
FSMQRLVKCNAWPCPNTVDCFVSRPTEKTVFTVFMIAVSGICILLNVTELCYLLIRYCSGKSKKPV*
Variant Samples
Additional References at PubMed
PMID:1693158   PMID:9529365   PMID:11216656   PMID:12081719   PMID:12239718   PMID:12562518   PMID:12865758   PMID:14985372   PMID:15967879   PMID:16217030   PMID:16222667   PMID:16380907  
PMID:18414213   PMID:20234132   PMID:21481246   PMID:23503914   PMID:23668481   PMID:24033266   PMID:24158611   PMID:25741868   PMID:26043044   PMID:26399936   PMID:26467025   PMID:27398341  
PMID:28492532   PMID:30311386  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000037834 CLINVAR
  RCV000146014 CLINVAR
  RCV000211719 CLINVAR
  RCV000515247 CLINVAR
  RCV000516830 CLINVAR
  RCV001257560 CLINVAR
  RCV002228125 CLINVAR
dbSNP (RS) rs111033299 CLINVAR
MedGen C1384666 CLINVAR
  C2673759 CLINVAR
  C3661900 CLINVAR
  C5680182 CLINVAR
  C5680250 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