RGD:11600757 Rat Genome Database

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Variant: RGD:11600757 -  Homo sapiens

RGD ID: 11600757
RS ID: rs867899567
ClinVar ID: CV312516
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD3E  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 118,175,478
GRCh38 11 118,304,763
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_38t1:c.-73T>C
LRG_38:g.5184T>C
NG_007383.1:g.5184T>C
NC_000011.10:g.118304763T>C
More... 		01/12/2018 5 prime utr variant uncertain significance CD3-EPSILON DEFICIENCY; CD3epsilon deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CD3E
Accession:NM_000733
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000276221 CLINVAR
dbSNP (RS) rs867899567 CLINVAR
MedGen C3810127 CLINVAR
NCBI Gene CD3E CLINVAR
OMIM 186830 CLINVAR
  615615 CLINVAR