RGD:11640251 Rat Genome Database

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Variant: RGD:11640251 -  Homo sapiens

RGD ID: 11640251
RS ID: rs139005182
ClinVar ID: CV270876
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJB3  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 35,251,033
GRCh38 1 34,785,432
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008309.1:g.9244C>G
NC_000001.11:g.34785432C>G
NC_000001.10:g.35251033C>G
NP_076872.1:p.Arg224Gly
More... 		11/25/2023 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GJB3
Accession:NM_024009
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 224
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWKTLQALLSGVNKYSTAFGRIWLSVVFVFRVLVYVVAAERVWGDEQKDFDCNTKQPGCTNVCYDNYFPISNIRLWALQ
LIFVTCPSLLVILHVAYREERERRHRQKHGDQCAKLYDNAGKKHGGLWWTYLFSLIFKLIIEFLFLYLLHTLWHGFNMPR
LVQCANVAPCPNIVDCYIARPTEKKIFTYFMVGASAVCIVLTICELCYLICHRVLRGLHKDKPGGGCSPSSSASRASTCR
CHHKLVEAGEVDPDPGNNKLQASAPNLTPI*

Gene Symbol:GJB3
Accession:NM_001005752
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 224
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDWKTLQALLSGVNKYSTAFGRIWLSVVFVFRVLVYVVAAERVWGDEQKDFDCNTKQPGCTNVCYDNYFPISNIRLWALQ
LIFVTCPSLLVILHVAYREERERRHRQKHGDQCAKLYDNAGKKHGGLWWTYLFSLIFKLIIEFLFLYLLHTLWHGFNMPR
LVQCANVAPCPNIVDCYIARPTEKKIFTYFMVGASAVCIVLTICELCYLICHRVLRGLHKDKPGGGCSPSSSASRASTCR
CHHKLVEAGEVDPDPGNNKLQASAPNLTPI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000335479 CLINVAR
  RCV002519244 CLINVAR
dbSNP (RS) rs139005182 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene GJB3 CLINVAR
OMIM 603324 CLINVAR