RGD:12905441 Rat Genome Database

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Variant: RGD:12905441 -  Homo sapiens

RGD ID: 12905441
RS ID: rs1064797089
ClinVar ID: CV413169
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 20,763,557
GRCh38 13 20,189,418
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_008358.1:g.8558C>A
NC_000013.11:g.20189418G>T
NC_000013.10:g.20763557G>T
NM_004004.5:c.164C>A
More... 		12/22/2016 missense variant pathogenic|not provided childhood Deafness, autosomal dominant 3a
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GJB2
Accession:XM_011535049
Location:EXON
Amino Acid Prediction: T to N (nonsynonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNNLQPGCKNVCYDHYFPISHIRLWALQ
LIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEEIKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDG
FSMQRLVKCNAWPCPNTVDCFVSRPTEKTVFTVFMIAVSGICILLNVTELCYLLIRYCSGKSKKPV*

Gene Symbol:GJB2
Accession:NM_004004
Location:EXON
Amino Acid Prediction: T to N (nonsynonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNNLQPGCKNVCYDHYFPISHIRLWALQ
LIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEEIKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDG
FSMQRLVKCNAWPCPNTVDCFVSRPTEKTVFTVFMIAVSGICILLNVTELCYLLIRYCSGKSKKPV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000487478 CLINVAR
dbSNP (RS) rs1064797089 CLINVAR
MedGen C2675750 CLINVAR
NCBI Gene GJB2 CLINVAR
OMIM 121011 CLINVAR
  601544 CLINVAR