RGD:8569295 Rat Genome Database

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Variant: RGD:8569295 -  Homo sapiens

RGD ID: 8569295
RS ID: rs78373007
ClinVar ID: CV44470
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD3E  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 118,184,567
GRCh38 11 118,313,852
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_38t1:c.498G>A
LRG_38:g.14273G>A
NG_007383.1:g.14273G>A
NC_000011.10:g.118313852G>A
More... 		11/26/2021 synonymous variant benign|likely benign Bubble boy disease; CD3-EPSILON DEFICIENCY; CD3epsilon deficiency; Severe Combined Immune Deficiency; Severe combined immunodeficiency
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CD3E
Accession:NM_000733
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 166
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSGTHWRVLGLCLLSVGVWGQDGNEEMGGITQTPYKVSISGTTVILTCPQYPGSEILWQHNDKNIGGDEDDKNIGSDED
HLSLKEFSELEQSGYYVCYPRGSKPEDANFYLYLRARVCENCMEMDVMSVATIVIVDICITGGLLLLVYYWSKNRKAKAK
PVTRGAGAGGRQRGQNKERPPPVPNPDYEPIRKGQRDLYSGLNQRRI*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000029458 CLINVAR
  RCV000651968 CLINVAR
dbSNP (RS) rs78373007 CLINVAR
MedGen C0085110 CLINVAR
  C3810127 CLINVAR
NCBI Gene CD3E CLINVAR
OMIM 186830 CLINVAR
  615615 CLINVAR
SNOMED CT 31323000 CLINVAR