RGD:126727754 Rat Genome Database

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Variant: RGD:126727754 -  Homo sapiens

RGD ID: 126727754
RS ID: rs1569215413
ClinVar ID: CV1015059
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 70,444,141
GRCh38 X 71,224,291
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_245p2:p.Leu195Gln
NP_000157.1:p.Leu195Gln
NP_001091111.1:p.Leu195Gln
LRG_245t2:c.584T>A
More... 		09/17/2020 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GJB1
Accession:XM_011530907
Location:EXON
Amino Acid Prediction: L to Q (nonsynonymous)
Amino Acid Position: 195
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDQFFPISHVRLWSLQ
LILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGY
AMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMQAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLS
PEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC*

Gene Symbol:GJB1
Accession:NM_000166
Location:EXON
Amino Acid Prediction: L to Q (nonsynonymous)
Amino Acid Position: 195
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDQFFPISHVRLWSLQ
LILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGY
AMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMQAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLS
PEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC*

Gene Symbol:GJB1
Accession:NM_001097642
Location:EXON
Amino Acid Prediction: L to Q (nonsynonymous)
Amino Acid Position: 195
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDQFFPISHVRLWSLQ
LILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKVHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGY
AMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMQAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLS
PEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001312350 CLINVAR
dbSNP (RS) rs1569215413 CLINVAR
MedGen CN118851 CLINVAR
NCBI Gene GJB1 CLINVAR
OMIM 304040 CLINVAR