RGD:15187951 Rat Genome Database

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Variant: RGD:15187951 -  Homo sapiens

RGD ID: 15187951
RS ID: rs145404340
ClinVar ID: CV732402
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 35,227,554
GRCh38 1 34,761,953
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.699G>A
NG_016243.1:g.7213G>A
NC_000001.11:g.34761953G>A
NC_000001.10:g.35227554G>A
More... 		12/11/2017 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GJB4
Accession:NM_153212
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 233
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWAFLQGLLSGVNKYSTVLSRIWLSVVFIFRVLVYVVAAEEVWDDEQKDFVCNTKQPGCPNVCYDEFFPVSHVRLWALQ
LILVTCPSLLVVMHVAYREERERKHHLKHGPNAPSLYDNLSKKRGGLWWTYLLSLIFKAAVDAGFLYIFHRLYKDYDMPR
VVACSVEPCPHTVDCYISRPTEKKVFTYFMVTTAAICILLNLSEVFYLVGKRCMEIFGPRHRRPRCRECLPDTCPPYVLS
QGGHPEDGNSVLMKAGSAPVDAGGYP*

Gene Symbol:GJB4
Accession:XM_011540679
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 233
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNWAFLQGLLSGVNKYSTVLSRIWLSVVFIFRVLVYVVAAEEVWDDEQKDFVCNTKQPGCPNVCYDEFFPVSHVRLWALQ
LILVTCPSLLVVMHVAYREERERKHHLKHGPNAPSLYDNLSKKRGGLWWTYLLSLIFKAAVDAGFLYIFHRLYKDYDMPR
VVACSVEPCPHTVDCYISRPTEKKVFTYFMVTTAAICILLNLSEVFYLVGKRCMEIFGPRHRRPRCRECLPDTCPPYVLS
QGGHPEDGNSVLMKAGSAPVDAGGYP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000909231 CLINVAR
dbSNP (RS) rs145404340 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GJB4 CLINVAR
OMIM 605425 CLINVAR