RGD:26889881 Rat Genome Database

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Variant: RGD:26889881 -  Homo sapiens

RGD ID: 26889881
RS ID: rs769684659
ClinVar ID: CV823497
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJC2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 228,346,699
GRCh38 1 228,158,998
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.10:g.228346699C>G
NM_020435.3:c.1240C>G
NP_065168.2:p.Arg414Gly
NM_020435.4:c.1240C>G
More... 		12/12/2019 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View
genetic disease  (IAGP)
paraplegia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GJC2
Accession:NM_020435
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 414
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTNMSWSFLTRLLEEIHNHSTFVGKVWLTVLVVFRIVLTAVGGEAIYSDEQAKFTCNTRQPGCDNVCYDAFAPLSHVRFW
VFQIVVISTPSVMYLGYAVHRLARASEQERRRALRRRPGPRRAPRAHLPPPHAGWPEPADLGEEEPMLGLGEEEEEEETG
AAEGAGEEAEEAGAEEACTKAVGADGKAAGTPGPTGQHDGRRRIQREGLMRVYVAQLVARAAFEVAFLVGQYLLYGFEVR
PFFPCSRQPCPHVVDCFVSRPTEKTVFLLVMYVVSCLCLLLNLCEMAHLGLGSAQDAVRGRRGPPASAPAPAPRPPPCAF
PAAAAGLACPPDYSLVVRAAERARAHDQNLANLALQALRDGAAAGDRDRDSSPCVGLPAASRGPPRAGAPASRTGSATSA
GTVGEQGRPGTHEGPGAKPRAGSEKGSASSRDGKTTVWI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001058663 CLINVAR
  RCV002554410 CLINVAR
dbSNP (RS) rs769684659 CLINVAR
MedGen C0037772 CLINVAR
  C0950123 CLINVAR
NCBI Gene GJC2 CLINVAR
OMIM 608803 CLINVAR