RGD:405768318 Rat Genome Database

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Variant: RGD:405768318 -  Homo sapiens

RGD ID: 405768318
ClinVar ID: CV3248389
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EEF2KMT  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 5,143,552
GRCh38 16 5,093,551
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001289029.2:c.159+1901C>T
NM_201400.4:c.173C>T
NM_201598.4:c.173C>T
NC_000016.10:g.5093551G>A
More... 		02/27/2024 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:EEF2KMT
Accession:XM_005255158
Location:5UTRS;EXON

Gene Symbol:EEF2KMT
Accession:XM_011522404
Location:5UTRS;INTRON

Gene Symbol:EEF2KMT
Accession:NM_201400
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPEENAGTELLLQSFERRFLAARTLRSFPWQSLEAKLRDSSDSELLRDILHKTVKHLVCVKHPPSVKYARCFLSELIKK
HEAVHTEPLDELYEALAETLMAKESTQGHRSYLLPSGGSVTLSESTAIISYGTTGLVTWDAALYLAEWAIENPAVFTNRT
VLELGSGAGLTGLAICKMCRPRAYIFSDCHSRVLEQLRGNVLLNGLSLEADITAKLDSPRVTVAQLDWDVATVHQLSAFQ
PDVVIAADVLYCPEAIMSLVGVLRRLAACREHQRAPEVYVAFTVRNPETCQLFTTELGRAGIRWEVEPRHEQKLFPYEEH
LEMAMLNLTL*

Gene Symbol:EEF2KMT
Accession:NM_201598
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPEENAGTELLLQSFERRFLAARTLRSFPWQSLEAKLRDSSDSELLRDILHKTVKHLVCVKHPPSVKYARCFLSELIKK
PSGGSVTLSESTAIISYGTTGLVTWDAALYLAEWAIENPAVFTNRTVLELGSGAGLTGLAICKMCRPRAYIFSDCHSRVL
EQLRGNVLLNGLSLEADITAKLDSPRVTVAQLDWDVATVHQLSAFQPDVVIAADVLYCPEAIMSLVGVLRRLAACREHQR
APEVYVAFTVRNPETCQLFTTELGRAGIRWEVEPRHEQKLFPYEEHLEMAMLNLTL*

Gene Symbol:EEF2KMT
Accession:NM_001289029
Location:INTRON

Gene Symbol:EEF2KMT
Accession:XM_005255157
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004384682 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene EEF2KMT CLINVAR
OMIM 615263 CLINVAR