RGD:13624195 Rat Genome Database

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Variant: RGD:13624195 -  Homo sapiens

RGD ID: 13624195
RS ID: rs374456909
ClinVar ID: CV526423
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD3E  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 118,184,417
GRCh38 11 118,313,702
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.353-5C>A
NM_000733.3:c.353-5C>A
LRG_38t1:c.353-5C>A
LRG_38:g.14123C>A
More... 		07/19/2022 intron variant likely benign|conflicting interpretations of pathogenicity|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:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000651966 CLINVAR
dbSNP (RS) rs374456909 CLINVAR
MedGen C3810127 CLINVAR
NCBI Gene CD3E CLINVAR
OMIM 186830 CLINVAR
  615615 CLINVAR