RGD:12738603 Rat Genome Database

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Variant: RGD:12738603 -  Homo sapiens

RGD ID: 12738603
RS ID: rs199883710
ClinVar ID: CV358132
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 20,763,483
GRCh38 13 20,189,344
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.8632C>T
NC_000013.11:g.20189344G>A
NC_000013.10:g.20763483G>A
NP_003995.2:p.Gln80Ter
More... 		06/18/2021 nonsense pathogenic|likely pathogenic childhood|infancy congenital deafness affects 1 in 1,000 births Connexin 26 deafness; Deafness nonsyndromic, Connexin 26 linked; Deafness, autosomal dominant 3a; Deafness, autosomal recessive 1A; DFNB 1 Nonsyndromic Hearing Loss and Deafness; GJB6-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness; Non-syndromic hearing loss; none provided; Nonsyndromic hearing loss; Nonsyndromic Hearing Loss and Deafness, DFNB1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GJB2
Accession:XM_011535049
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGCKNVCYDHYFPISHIRLWAL*
LIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEEIKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDG
FSMQRLVKCNAWPCPNTVDCFVSRPTEKTVFTVFMIAVSGICILLNVTELCYLLIRYCSGKSKKPV*

Gene Symbol:GJB2
Accession:NM_004004
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGCKNVCYDHYFPISHIRLWAL*
LIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEEIKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDG
FSMQRLVKCNAWPCPNTVDCFVSRPTEKTVFTVFMIAVSGICILLNVTELCYLLIRYCSGKSKKPV*
Variant Samples
Additional References at PubMed
PMID:10633133   PMID:12111646   PMID:17041943   PMID:17666888   PMID:20083784   PMID:22991996   PMID:24341454   PMID:26043044   PMID:27610647   PMID:28492532   PMID:30168495  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000410120 CLINVAR
  RCV000412105 CLINVAR
  RCV001054602 CLINVAR
  RCV001192518 CLINVAR
dbSNP (RS) rs199883710 CLINVAR
MedGen C2673759 CLINVAR
  C2675750 CLINVAR
  C3661900 CLINVAR
  C3711374 CLINVAR
NCBI Gene GJB2 CLINVAR
OMIM 121011 CLINVAR
  220290 CLINVAR
  601544 CLINVAR