RGD:14700465 Rat Genome Database

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Variant: RGD:14700465 -  Homo sapiens

RGD ID: 14700465
RS ID: rs1569215025
ClinVar ID: CV625466
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 70,443,616
GRCh38 X 71,223,766
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000166.6:c.59T>A
LRG_245:g.13555T>A
NC_000023.10:g.70443616T>A
LRG_245t2:c.59T>A
More... 		missense variant uncertain significance 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; 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: I to N (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWTGLYTLLSGVNRHSTANGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDQFFPISHVRLWSLQ
LILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGY
AMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLS
PEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC*

Gene Symbol:GJB1
Accession:XM_011530907
Location:EXON
Amino Acid Prediction: I to N (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWTGLYTLLSGVNRHSTANGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDQFFPISHVRLWSLQ
LILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGY
AMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLS
PEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC*

Gene Symbol:GJB1
Accession:NM_000166
Location:EXON
Amino Acid Prediction: I to N (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWTGLYTLLSGVNRHSTANGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDQFFPISHVRLWSLQ
LILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGY
AMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLS
PEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC*
Variant Samples
Additional References at PubMed
PMID:10737979  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000790298 CLINVAR
  RCV003447306 CLINVAR
dbSNP (RS) rs1569215025 CLINVAR
MedGen C0007959 CLINVAR
  C0393808 CLINVAR
NCBI Gene GJB1 CLINVAR
OMIM 302800 CLINVAR
  304040 CLINVAR
SNOMED CT 50548001 CLINVAR