RGD:13814316 Rat Genome Database

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Variant: RGD:13814316 -  Homo sapiens

RGD ID: 13814316
RS ID: rs201543770
ClinVar ID: CV570331
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD3E  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 118,182,886
GRCh38 11 118,312,171
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.103+1G>T
LRG_38t1:c.103+1G>T
LRG_38:g.12592G>T
NG_007383.1:g.12592G>T
More... 		01/18/2018 splice donor variant likely pathogenic 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:8490660   PMID:15546002   PMID:16199547   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000690815 CLINVAR
dbSNP (RS) rs201543770 CLINVAR
MedGen C3810127 CLINVAR
NCBI Gene CD3E CLINVAR
OMIM 186830 CLINVAR
  615615 CLINVAR