RGD:15103939 Rat Genome Database

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Variant: RGD:15103939 -  Homo sapiens

RGD ID: 15103939
RS ID: rs185185591
ClinVar ID: CV759842
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD3E  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 118,185,215
GRCh38 11 118,314,500
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000733.4:c.567+6G>A
NG_007383.1:g.14921G>A
NC_000011.10:g.118314500G>A
NC_000011.9:g.118185215G>A
More... 		11/29/2018 intron variant likely benign CD3-EPSILON DEFICIENCY; CD3epsilon deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CD3E
Accession:NM_000733
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000915259 CLINVAR
dbSNP (RS) rs185185591 CLINVAR
MedGen C3810127 CLINVAR
NCBI Gene CD3E CLINVAR
OMIM 186830 CLINVAR
  615615 CLINVAR