RGD:8558425 Rat Genome Database

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Variant: RGD:8558425 -  Homo sapiens

RGD ID: 8558425
RS ID: rs80358212
ClinVar ID: CV20047
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 35,226,920
GRCh38 1 34,761,319
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_016243.1:g.6579G>A
NC_000001.11:g.34761319G>A
NC_000001.10:g.35226920G>A
NP_694944.1:p.Arg22His
More... 		01/31/2022 missense|missense variant pathogenic|uncertain significance neonatal/infancy none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GJB4
Accession:NM_153212
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWAFLQGLLSGVNKYSTVLSHIWLSVVFIFRVLVYVVAAEEVWDDEQKDFVCNTKQPGCPNVCYDEFFPVSHVRLWALQ
LILVTCPSLLVVMHVAYREERERKHHLKHGPNAPSLYDNLSKKRGGLWWTYLLSLIFKAAVDAGFLYIFHRLYKDYDMPR
VVACSVEPCPHTVDCYISRPTEKKVFTYFMVTTAAICILLNLSEVFYLVGKRCMEIFGPRHRRPRCRECLPDTCPPYVLS
QGGHPEDGNSVLMKAGSAPVDAGGYP*

Gene Symbol:GJB4
Accession:XM_011540679
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWAFLQGLLSGVNKYSTVLSHIWLSVVFIFRVLVYVVAAEEVWDDEQKDFVCNTKQPGCPNVCYDEFFPVSHVRLWALQ
LILVTCPSLLVVMHVAYREERERKHHLKHGPNAPSLYDNLSKKRGGLWWTYLLSLIFKAAVDAGFLYIFHRLYKDYDMPR
VVACSVEPCPHTVDCYISRPTEKKVFTYFMVTTAAICILLNLSEVFYLVGKRCMEIFGPRHRRPRCRECLPDTCPPYVLS
QGGHPEDGNSVLMKAGSAPVDAGGYP*
Variant Samples
Additional References at PubMed
PMID:12648223  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000005311 CLINVAR
  RCV001836700 CLINVAR
dbSNP (RS) rs80358212 CLINVAR
MedGen C4479618 CLINVAR
  CN517202 CLINVAR
NCBI Gene GJB4 CLINVAR
OMIM 605425 CLINVAR
  617524 CLINVAR
OMIM Allele 605425.0005 CLINVAR