RGD:11549856 Rat Genome Database

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Variant: RGD:11549856 -  Homo sapiens

RGD ID: 11549856
RS ID: rs139992251
ClinVar ID: CV249754
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GJC2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 228,345,606
GRCh38 1 228,157,905
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011838.1:g.13054C>T
NC_000001.11:g.228157905C>T
NC_000001.10:g.228345606C>T
NP_065168.2:p.Asp49=
More... 		03/01/2019 synonymous variant benign|likely benign AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View
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: D to D (synonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTNMSWSFLTRLLEEIHNHSTFVGKVWLTVLVVFRIVLTAVGGEAIYSDEQAKFTCNTRQPGCDNVCYDAFAPLSHVRFW
VFQIVVISTPSVMYLGYAVHRLARASEQERRRALRRRPGPRRAPRAHLPPPHAGWPEPADLGEEEPMLGLGEEEEEEETG
AAEGAGEEAEEAGAEEACTKAVGADGKAAGTPGPTGQHDGRRRIQREGLMRVYVAQLVARAAFEVAFLVGQYLLYGFEVR
PFFPCSRQPCPHVVDCFVSRPTEKTVFLLVMYVVSCLCLLLNLCEMAHLGLGSAQDAVRGRRGPPASAPAPAPRPPPCAF
PAAAAGLACPPDYSLVVRAAERARAHDQNLANLALQALRDGAAAGDRDRDSSPCVGLPAASRGPPRAGAPASRTGSATSA
GTVGEQGRPGTHERPGAKPRAGSEKGSASSRDGKTTVWI*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000250957 CLINVAR
  RCV000556865 CLINVAR
dbSNP (RS) rs139992251 CLINVAR
MedGen C0037772 CLINVAR
  CN169374 CLINVAR
NCBI Gene GJC2 CLINVAR
OMIM 608803 CLINVAR