RGD:14700171 Rat Genome Database

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Variant: RGD:14700171 -  Homo sapiens

RGD ID: 14700171
RS ID: rs1602348610
ClinVar ID: CV625463
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 70,443,604
GRCh38 X 71,223,754
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001097642.2:c.47A>T
LRG_245t1:c.47A>T
LRG_245t2:c.47A>T
NG_008357.1:g.13543A>T
More... 		12/01/2020 missense variant pathogenic|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: H to L (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWTGLYTLLSGVNRLSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDQFFPISHVRLWSLQ
LILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGY
AMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLS
PEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC*

Gene Symbol:GJB1
Accession:NM_000166
Location:EXON
Amino Acid Prediction: H to L (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWTGLYTLLSGVNRLSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDQFFPISHVRLWSLQ
LILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGY
AMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLS
PEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC*

Gene Symbol:GJB1
Accession:XM_011530907
Location:EXON
Amino Acid Prediction: H to L (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWTGLYTLLSGVNRLSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDQFFPISHVRLWSLQ
LILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGY
AMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLS
PEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC*
Variant Samples
Additional References at PubMed
PMID:19691535   PMID:25741868   PMID:31673878  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000789875 CLINVAR
  RCV001353154 CLINVAR
dbSNP (RS) rs1602348610 CLINVAR
MedGen C0007959 CLINVAR
  C0393808 CLINVAR
NCBI Gene GJB1 CLINVAR
OMIM 302800 CLINVAR
  304040 CLINVAR
SNOMED CT 50548001 CLINVAR