RGD:155923674 Rat Genome Database

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Variant: RGD:155923674 -  Homo sapiens

RGD ID: 155923674
ClinVar ID: CV2212337
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EIF3E  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 109,215,722
GRCh38 8 108,203,493
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001568.3:c.1072G>C
NC_000008.11:g.108203493C>G
NC_000008.10:g.109215722C>G
NM_001568.2:c.1072G>C
More... 		08/13/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:EIF3E
Accession:NM_001568
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 358
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEYDLTTRIAHFLDRHLVFPLLEFLSVKEIYNEKELLQGKLDLLSDTNMVDFAMDVYKNLYSDDIPHALREKRTTVVAQ
LKQLQAETEPIVKMFEDPETTRQMQSTRDGRMLFDYLADKHGFRQEYLDTLYRYAKFQYECGNYSGAAEYLYFFRVLVPA
TDRNALSSLWGKLASEILMQNWDAAMEDLTRLKETIDNNSVSSPLQSLQQRTWLIHWSLFVFFNHPKGRDNIIDLFLYQP
QYLNAIQTMCPHILRYLTTAVITNKDVRKRRQVLKDLVKVIQQESYTYKDPITEFVECLYVNFDFDGAQKKLRECESVLV
NDFFLVACLEDFIENARLFIFETFCRIHQCISINMLAHKLNMTPEEAERWIVNLIRNARLDAKIDSKLGHVVMGNNAVSP
YQQVIEKTKSLSFRSQMLAMNIEKKLNQNSRSEAPNWATQDSGFY*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004091284 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene EIF3E CLINVAR
OMIM 602210 CLINVAR