RGD:11610720 Rat Genome Database

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Variant: RGD:11610720 -  Homo sapiens

RGD ID: 11610720
RS ID: rs201867379
ClinVar ID: CV318478
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD3E  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 118,179,144
GRCh38 11 118,308,429
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_38t1:c.73A>G
LRG_38:g.8850A>G
NG_007383.1:g.8850A>G
NC_000011.10:g.118308429A>G
More... 		01/12/2018 missense variant 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:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSGTHWRVLGLCLLSVGVWGQDGDEEMGGITQTPYKVSISGTTVILTCPQYPGSEILWQHNDKNIGGDEDDKNIGSDED
HLSLKEFSELEQSGYYVCYPRGSKPEDANFYLYLRARVCENCMEMDVMSVATIVIVDICITGGLLLLVYYWSKNRKAKAK
PVTRGAGAGGRQRGQNKERPPPVPNPDYEPIRKGQRDLYSGLNQRRI*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000385303 CLINVAR
dbSNP (RS) rs201867379 CLINVAR
MedGen C3810127 CLINVAR
NCBI Gene CD3E CLINVAR
OMIM 186830 CLINVAR
  615615 CLINVAR