RGD:156339608 Rat Genome Database

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Variant: RGD:156339608 -  Homo sapiens

RGD ID: 156339608
ClinVar ID: CV2225114
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD3E  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 118,184,455
GRCh38 11 118,313,740
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_38t1:c.386C>T
NM_000733.4:c.386C>T
LRG_38:g.14161C>T
NG_007383.1:g.14161C>T
More... 		07/14/2021 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CD3E
Accession:NM_000733
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQSGTHWRVLGLCLLSVGVWGQDGNEEMGGITQTPYKVSISGTTVILTCPQYPGSEILWQHNDKNIGGDEDDKNIGSDED
HLSLKEFSELEQSGYYVCYPRGSKPEDANFYLYLRARVCENCMEMDVMLVATIVIVDICITGGLLLLVYYWSKNRKAKAK
PVTRGAGAGGRQRGQNKERPPPVPNPDYEPIRKGQRDLYSGLNQRRI*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002718962 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene CD3E CLINVAR
OMIM 186830 CLINVAR