RGD:13471380 Rat Genome Database

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Variant: RGD:13471380 -  Homo sapiens

RGD ID: 13471380
RS ID: rs1555937270
ClinVar ID: CV442454
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 70,444,179
GRCh38 X 71,224,329
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_245t2:c.622G>A
LRG_245p2:p.Glu208Lys
NG_008357.1:g.14118G>A
NC_000023.11:g.71224329G>A
More... 		10/01/2020 missense variant pathogenic|uncertain significance Charcot-Marie-Tooth Neuropathy; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GJB1
Accession:NM_000166
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 208
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDQFFPISHVRLWSLQ
LILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGY
AMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAKVVYLIIRACARRAQRRSNPPSRKGSGFGHRLS
PEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC*

Gene Symbol:GJB1
Accession:NM_001097642
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 208
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDQFFPISHVRLWSLQ
LILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGY
AMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAKVVYLIIRACARRAQRRSNPPSRKGSGFGHRLS
PEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC*

Gene Symbol:GJB1
Accession:XM_011530907
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 208
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDQFFPISHVRLWSLQ
LILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGY
AMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAKVVYLIIRACARRAQRRSNPPSRKGSGFGHRLS
PEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC*
Variant Samples
Additional References at PubMed
PMID:8162049   PMID:9364054   PMID:9592087   PMID:10234007   PMID:10586261   PMID:10586291   PMID:10646523   PMID:10737979   PMID:10848620   PMID:14960772   PMID:15006706   PMID:16912585  
PMID:17353473   PMID:17646144   PMID:21291455   PMID:21692908   PMID:25429913   PMID:26454100   PMID:26467025   PMID:27549087   PMID:28448691   PMID:28492532   PMID:29629536  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000518825 CLINVAR
  RCV000789848 CLINVAR
  RCV000805747 CLINVAR
  RCV002367715 CLINVAR
dbSNP (RS) rs1555937270 CLINVAR
MedGen C0007959 CLINVAR
  C0950123 CLINVAR
  C3661900 CLINVAR
  CN118851 CLINVAR
NCBI Gene GJB1 CLINVAR
OMIM 304040 CLINVAR
SNOMED CT 50548001 CLINVAR