RGD:28907029 Rat Genome Database

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Variant: RGD:28907029 -  Homo sapiens

RGD ID: 28907029
RS ID: rs202056225
ClinVar ID: CV867091
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD3E  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 118,186,568
GRCh38 11 118,315,853
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_38t1:c.*311C>T
NM_000733.4:c.*311C>T
LRG_38:g.16274C>T
NG_007383.1:g.16274C>T
More... 		03/16/2018 3 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:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001106989 CLINVAR
dbSNP (RS) rs202056225 CLINVAR
MedGen C3810127 CLINVAR
NCBI Gene CD3E CLINVAR
OMIM 186830 CLINVAR
  615615 CLINVAR