RGD:9688953 Rat Genome Database

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Variant: RGD:9688953 -  Homo sapiens

RGD ID: 9688953
RS ID: rs727504302
ClinVar ID: CV175905
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 13 20,763,482
GRCh38 13 20,189,343
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.8633A>C
NC_000013.11:g.20189343T>G
NC_000013.10:g.20763482T>G
NP_003995.2:p.Gln80Pro
More... 		10/08/2020 missense variant pathogenic|likely pathogenic neonatal/infancy congenital deafness affects 1 in 1,000 births Connexin 26 deafness; Deafness nonsyndromic, Connexin 26 linked; Deafness, autosomal recessive 1A; DFNB 1 Nonsyndromic Hearing Loss and Deafness; GJB6-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness; none provided; 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 P (nonsynonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGCKNVCYDHYFPISHIRLWALP
LIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEEIKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDG
FSMQRLVKCNAWPCPNTVDCFVSRPTEKTVFTVFMIAVSGICILLNVTELCYLLIRYCSGKSKKPV*

Gene Symbol:GJB2
Accession:NM_004004
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGCKNVCYDHYFPISHIRLWALP
LIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEEIKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDG
FSMQRLVKCNAWPCPNTVDCFVSRPTEKTVFTVFMIAVSGICILLNVTELCYLLIRYCSGKSKKPV*
Variant Samples
Additional References at PubMed
PMID:12325027   PMID:15855033   PMID:16380907   PMID:16532460   PMID:17666888   PMID:21738759   PMID:24033266   PMID:25388846   PMID:25447126   PMID:26467025   PMID:28492532   PMID:30094485  
PMID:30473554  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000154345 CLINVAR
  RCV000505508 CLINVAR
  RCV001288584 CLINVAR
dbSNP (RS) rs727504302 CLINVAR
MedGen C2673759 CLINVAR
  C3661900 CLINVAR
  C5680250 CLINVAR
NCBI Gene GJB2 CLINVAR
OMIM 121011 CLINVAR
  220290 CLINVAR