RGD:12906239 Rat Genome Database

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Variant: RGD:12906239 -  Homo sapiens

RGD ID: 12906239
RS ID: rs143630318
ClinVar ID: CV415248
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD3E  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 118,178,008
GRCh38 11 118,307,293
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_38t1:c.55G>A
LRG_38:g.7714G>A
NG_007383.1:g.7714G>A
NC_000011.10:g.118307293G>A
More... 		07/18/2018 missense variant likely benign|uncertain significance CD3-EPSILON DEFICIENCY; CD3epsilon deficiency; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CD3E
Accession:NM_000733
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 19
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSGTHWRVLGLCLLSVGIWGQDGNEEMGGITQTPYKVSISGTTVILTCPQYPGSEILWQHNDKNIGGDEDDKNIGSDED
HLSLKEFSELEQSGYYVCYPRGSKPEDANFYLYLRARVCENCMEMDVMSVATIVIVDICITGGLLLLVYYWSKNRKAKAK
PVTRGAGAGGRQRGQNKERPPPVPNPDYEPIRKGQRDLYSGLNQRRI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001696915 CLINVAR
  RCV002527028 CLINVAR
dbSNP (RS) rs143630318 CLINVAR
MedGen C3661900 CLINVAR
  C3810127 CLINVAR
NCBI Gene CD3E CLINVAR
OMIM 186830 CLINVAR
  615615 CLINVAR