RGD:156399505 Rat Genome Database

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Variant: RGD:156399505 -  Homo sapiens

RGD ID: 156399505
ClinVar ID: CV1897446
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 35,226,953
GRCh38 1 34,761,352
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1331t1:c.98T>C
NM_153212.3:c.98T>C
LRG_1331:g.6612T>C
NG_016243.1:g.6612T>C
More... 		10/05/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GJB4
Accession:XM_011540679
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWAFLQGLLSGVNKYSTVLSRIWLSVVFIFRALVYVVAAEEVWDDEQKDFVCNTKQPGCPNVCYDEFFPVSHVRLWALQ
LILVTCPSLLVVMHVAYREERERKHHLKHGPNAPSLYDNLSKKRGGLWWTYLLSLIFKAAVDAGFLYIFHRLYKDYDMPR
VVACSVEPCPHTVDCYISRPTEKKVFTYFMVTTAAICILLNLSEVFYLVGKRCMEIFGPRHRRPRCRECLPDTCPPYVLS
QGGHPEDGNSVLMKAGSAPVDAGGYP*

Gene Symbol:GJB4
Accession:NM_153212
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWAFLQGLLSGVNKYSTVLSRIWLSVVFIFRALVYVVAAEEVWDDEQKDFVCNTKQPGCPNVCYDEFFPVSHVRLWALQ
LILVTCPSLLVVMHVAYREERERKHHLKHGPNAPSLYDNLSKKRGGLWWTYLLSLIFKAAVDAGFLYIFHRLYKDYDMPR
VVACSVEPCPHTVDCYISRPTEKKVFTYFMVTTAAICILLNLSEVFYLVGKRCMEIFGPRHRRPRCRECLPDTCPPYVLS
QGGHPEDGNSVLMKAGSAPVDAGGYP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002584727 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GJB4 CLINVAR
OMIM 605425 CLINVAR