RGD:8601017 Rat Genome Database

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Variant: RGD:8601017 -  Homo sapiens

RGD ID: 8601017
RS ID: rs116840819
ClinVar ID: CV33934
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 70,443,780
GRCh38 X 71,223,930
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_245t1:c.223C>T
LRG_245:g.13719C>T
NG_008357.1:g.13719C>T
NC_000023.11:g.71223930C>T
More...
01/26/2022 missense|missense variant pathogenic|likely pathogenic|uncertain significance childhood Charcot-Marie-Tooth Neuropathy; Charcot-Marie-Tooth Neuropathy X Type 1; CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1; Charcot-Marie-Tooth peroneal muscular atrophy, X-linked; CMTX 1; none provided; X-linked Charcot-Marie-Tooth disease type 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GJB1
Accession:NM_001097642
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDQFFPISHVWLWSLQ
LILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGY
AMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLS
PEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC*

Gene Symbol:GJB1
Accession:NM_000166
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDQFFPISHVWLWSLQ
LILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGY
AMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLS
PEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC*

Gene Symbol:GJB1
Accession:XM_011530907
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDQFFPISHVWLWSLQ
LILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGY
AMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLS
PEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC*

Variant Samples
Additional References at PubMed
PMID:9272161   PMID:10732813   PMID:12402337   PMID:12460545   PMID:14663027   PMID:15719046   PMID:17100997   PMID:19369543   PMID:20301548   PMID:23209285   PMID:25741868   PMID:26467025  
PMID:27804109   PMID:28071741   PMID:28334782   PMID:28492532   PMID:29095325   PMID:29462293   PMID:30373780   PMID:32399692  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000020172 CLINVAR
  RCV000236563 CLINVAR
  RCV000654844 CLINVAR
  RCV000789309 CLINVAR
  RCV002426512 CLINVAR
dbSNP (RS) rs116840819 CLINVAR
MedGen C0007959 CLINVAR
  C0393808 CLINVAR
  C0950123 CLINVAR
  C3661900 CLINVAR
  CN118851 CLINVAR
NCBI Gene GJB1 CLINVAR
OMIM 302800 CLINVAR
  304040 CLINVAR
SNOMED CT 50548001 CLINVAR