RGD:401737637 Rat Genome Database

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Variant: RGD:401737637 -  Homo sapiens

RGD ID: 401737637
ClinVar ID: CV2718158
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 35,227,351
GRCh38 1 34,761,750
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_153212.3:c.496G>A
LRG_1331:g.7010G>A
NG_016243.1:g.7010G>A
NC_000001.11:g.34761750G>A
More... 		05/23/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GJB4
Accession:XM_011540679
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 166
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWAFLQGLLSGVNKYSTVLSRIWLSVVFIFRVLVYVVAAEEVWDDEQKDFVCNTKQPGCPNVCYDEFFPVSHVRLWALQ
LILVTCPSLLVVMHVAYREERERKHHLKHGPNAPSLYDNLSKKRGGLWWTYLLSLIFKAAVDAGFLYIFHRLYKDYDMPR
VVACSMEPCPHTVDCYISRPTEKKVFTYFMVTTAAICILLNLSEVFYLVGKRCMEIFGPRHRRPRCRECLPDTCPPYVLS
QGGHPEDGNSVLMKAGSAPVDAGGYP*

Gene Symbol:GJB4
Accession:NM_153212
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 166
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWAFLQGLLSGVNKYSTVLSRIWLSVVFIFRVLVYVVAAEEVWDDEQKDFVCNTKQPGCPNVCYDEFFPVSHVRLWALQ
LILVTCPSLLVVMHVAYREERERKHHLKHGPNAPSLYDNLSKKRGGLWWTYLLSLIFKAAVDAGFLYIFHRLYKDYDMPR
VVACSMEPCPHTVDCYISRPTEKKVFTYFMVTTAAICILLNLSEVFYLVGKRCMEIFGPRHRRPRCRECLPDTCPPYVLS
QGGHPEDGNSVLMKAGSAPVDAGGYP*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003273473 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene GJB4 CLINVAR
OMIM 605425 CLINVAR