RGD:13795517 Rat Genome Database

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Variant: RGD:13795517 -  Homo sapiens

RGD ID: 13795517
RS ID: rs1566528748
ClinVar ID: CV551727
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 13 20,763,495
GRCh38 13 20,189,356
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.8620C>G
NC_000013.10:g.20763495G>C
NC_000013.11:g.20189356G>C
NP_003995.2:p.Leu76Val
More... 		11/11/2010 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View
Hearing Loss  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GJB2
Accession:XM_011535049
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 76
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGCKNVCYDHYFPISHIRVWALQ
LIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEEIKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDG
FSMQRLVKCNAWPCPNTVDCFVSRPTEKTVFTVFMIAVSGICILLNVTELCYLLIRYCSGKSKKPV*

Gene Symbol:GJB2
Accession:NM_004004
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 76
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGCKNVCYDHYFPISHIRVWALQ
LIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEEIKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDG
FSMQRLVKCNAWPCPNTVDCFVSRPTEKTVFTVFMIAVSGICILLNVTELCYLLIRYCSGKSKKPV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000678873 CLINVAR
dbSNP (RS) rs1566528748 CLINVAR
MedGen C3887873 CLINVAR
NCBI Gene GJB2 CLINVAR
OMIM 121011 CLINVAR