RGD:8607604 Rat Genome Database

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Variant: RGD:8607604 -  Homo sapiens

RGD ID: 8607604
RS ID: rs111033294
ClinVar ID: CV53930
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 13 20,763,104
GRCh38 13 20,188,965
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.9011A>G
NC_000013.11:g.20188965T>C
NC_000013.10:g.20763104T>C
NP_003995.2:p.Asn206Ser
More... 		09/16/2020 missense|missense variant pathogenic|likely pathogenic neonatal/infancy congenital deafness affects 1 in 1,000 births Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Autosomal dominant nonsyndromic hearing loss 3A; Autosomal recessive nonsyndromic hearing loss 1B; 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, autosomal recessive 1b; 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

Variant Details
Variant Transcripts
Gene Symbol:GJB2
Accession:NM_004004
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 206
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGCKNVCYDHYFPISHIRLWALQ
LIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEEIKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDG
FSMQRLVKCNAWPCPNTVDCFVSRPTEKTVFTVFMIAVSGICILLSVTELCYLLIRYCSGKSKKPV*

Gene Symbol:GJB2
Accession:XM_011535049
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 206
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGCKNVCYDHYFPISHIRLWALQ
LIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEEIKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDG
FSMQRLVKCNAWPCPNTVDCFVSRPTEKTVFTVFMIAVSGICILLSVTELCYLLIRYCSGKSKKPV*
Variant Samples
Additional References at PubMed
PMID:11493200   PMID:11556849   PMID:12172394   PMID:12865758   PMID:14985372   PMID:15070423   PMID:15241677   PMID:15967879   PMID:16380907   PMID:16864573   PMID:16950989   PMID:17666888  
PMID:18414213   PMID:18684989   PMID:18988928   PMID:22796187   PMID:23328711   PMID:23668481   PMID:23967136   PMID:24033266   PMID:24158611   PMID:25087612   PMID:25401782   PMID:25741868  
PMID:26467025   PMID:28492532   PMID:30311386   PMID:30390570   PMID:31370293   PMID:115556849  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000037868 CLINVAR
  RCV000146025 CLINVAR
  RCV000211783 CLINVAR
  RCV000515258 CLINVAR
  RCV000724546 CLINVAR
  RCV001004386 CLINVAR
  RCV001257566 CLINVAR
dbSNP (RS) rs111033294 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
  612645 CLINVAR
SNOMED CT 24559001 CLINVAR