rs770330002 Rat Genome Database

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Variant: rs770330002 -  Homo sapiens

RGD ID: 13788487
RS ID: rs770330002
ClinVar ID: CV546778
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 20,763,207
GRCh38 13 20,189,068
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.8908T>A
NC_000013.11:g.20189068A>T
NC_000013.10:g.20763207A>T
NP_003995.2:p.Trp172Arg
More... 		11/05/2023 missense variant pathogenic|uncertain significance 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:NM_004004
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGCKNVCYDHYFPISHIRLWALQ
LIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEEIKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDG
FSMQRLVKCNARPCPNTVDCFVSRPTEKTVFTVFMIAVSGICILLNVTELCYLLIRYCSGKSKKPV*

Gene Symbol:GJB2
Accession:XM_011535049
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWGTLQTILGGVNKHSTSIGKIWLTVLFIFRIMILVVAAKEVWGDEQADFVCNTLQPGCKNVCYDHYFPISHIRLWALQ
LIFVSTPALLVAMHVAYRRHEKKRKFIKGEIKSEFKDIEEIKTQKVRIEGSLWWTYTSSIFFRVIFEAAFMYVFYVMYDG
FSMQRLVKCNARPCPNTVDCFVSRPTEKTVFTVFMIAVSGICILLNVTELCYLLIRYCSGKSKKPV*
Variant Samples
Additional References at PubMed
PMID:15790391   PMID:18941476   PMID:20201936   PMID:28492532   PMID:31195736  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000673989 CLINVAR
  RCV001861830 CLINVAR
dbSNP (RS) rs770330002 CLINVAR
MedGen C2673759 CLINVAR
  C3661900 CLINVAR
NCBI Gene GJB2 CLINVAR
OMIM 121011 CLINVAR
  220290 CLINVAR