RGD:155911922 Rat Genome Database

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Variant: RGD:155911922 -  Homo sapiens

RGD ID: 155911922
ClinVar ID: CV2085019
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 70,443,749
GRCh38 X 71,223,899
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_245t2:c.192C>A
NM_000166.6:c.192C>A
NM_001097642.3:c.192C>A
LRG_245:g.13688C>A
More... 		08/25/2022 nonsense pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GJB1
Accession:NM_001097642
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSV*YDQFFPISHVRLWSLQ
LILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGY
AMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLS
PEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC*

Gene Symbol:GJB1
Accession:NM_000166
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSV*YDQFFPISHVRLWSLQ
LILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGY
AMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLS
PEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC*

Gene Symbol:GJB1
Accession:XM_011530907
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSV*YDQFFPISHVRLWSLQ
LILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGY
AMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLS
PEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC*
Variant Samples
Additional References at PubMed
PMID:9401007   PMID:9452099   PMID:10071100   PMID:12497641   PMID:19259128   PMID:24327141   PMID:27544631   PMID:28469099   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002858558 CLINVAR
MedGen CN118851 CLINVAR
NCBI Gene GJB1 CLINVAR
OMIM 304040 CLINVAR