RGD:14699754 Rat Genome Database

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Variant: RGD:14699754 -  Homo sapiens

RGD ID: 14699754
RS ID: rs1602349254
ClinVar ID: CV625586
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 70,443,931
GRCh38 X 71,224,081
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.10:g.70443931T>A
NM_000166.5:c.374T>A
NP_000157.1:p.Val125Asp
NM_000166.6:c.374T>A
More... 		missense variant uncertain significance Charcot-Marie-Tooth Neuropathy
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GJB1
Accession:NM_000166
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDQFFPISHVRLWSLQ
LILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKDHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGY
AMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLS
PEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC*

Gene Symbol:GJB1
Accession:XM_011530907
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDQFFPISHVRLWSLQ
LILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKDHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGY
AMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLS
PEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC*

Gene Symbol:GJB1
Accession:NM_001097642
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWTGLYTLLSGVNRHSTAIGRVWLSVIFIFRIMVLVVAAESVWGDEKSSFICNTLQPGCNSVCYDQFFPISHVRLWSLQ
LILVSTPALLVAMHVAHQQHIEKKMLRLEGHGDPLHLEEVKRHKDHISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGY
AMVRLVKCDVYPCPNTVDCFVSRPTEKTVFTVFMLAASGICIILNVAEVVYLIIRACARRAQRRSNPPSRKGSGFGHRLS
PEYKQNEINKLLSEQDGSLKDILRRSPGTGAGLAEKSDRCSAC*
Variant Samples
Additional References at PubMed
PMID:12185164  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000789254 CLINVAR
dbSNP (RS) rs1602349254 CLINVAR
MedGen C0007959 CLINVAR
NCBI Gene GJB1 CLINVAR
OMIM 304040 CLINVAR
SNOMED CT 50548001 CLINVAR