RGD:156257321 Rat Genome Database

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Variant: RGD:156257321 -  Homo sapiens

RGD ID: 156257321
ClinVar ID: CV2277654
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EEF2KMT  LOC127883024  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 5,140,189
GRCh38 16 5,090,188
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.455C>T
NM_201598.4:c.536C>T
NM_201400.4:c.638C>T
NG_132991.1:g.31G>A
More... 		06/24/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:EEF2KMT
Accession:XM_005255158
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 113
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKESTQGHRSYLLPSGGSVTLSESTAIISYGTTGLVTWDAALYLAEWAIENPAVFTNRTVLELGSGAGLTGLAICKMCR
PRAYIFSDCHSRVLEQLRGNVLLNGLSLEADIIAKLDSPRVTVAQLDWDVATVHQLSAFQPDVVIAADVLYCPEAIMSLV
GVLRRLAACREHQRAPEVYVAFTVRNPETCQLFTTELGRAGIRWEVEPRHEQKLFPYEEHLEMAMLNLTL*

Gene Symbol:EEF2KMT
Accession:NM_201400
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 213
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPEENAGTELLLQSFERRFLAARTLRSFPWQSLEAKLRDSSDSELLRDILHKTVKHPVCVKHPPSVKYARCFLSELIKK
HEAVHTEPLDELYEALAETLMAKESTQGHRSYLLPSGGSVTLSESTAIISYGTTGLVTWDAALYLAEWAIENPAVFTNRT
VLELGSGAGLTGLAICKMCRPRAYIFSDCHSRVLEQLRGNVLLNGLSLEADIIAKLDSPRVTVAQLDWDVATVHQLSAFQ
PDVVIAADVLYCPEAIMSLVGVLRRLAACREHQRAPEVYVAFTVRNPETCQLFTTELGRAGIRWEVEPRHEQKLFPYEEH
LEMAMLNLTL*

Gene Symbol:EEF2KMT
Accession:NM_001289029
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 152
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPEENAGTELLLQSFERRFLAARTLRSFPWQSLEAKLRDSSDSELLRDILHKPSGGSVTLSESTAIISYGTTGLVTWDA
ALYLAEWAIENPAVFTNRTVLELGSGAGLTGLAICKMCRPRAYIFSDCHSRVLEQLRGNVLLNGLSLEADIIAKLDSPRV
TVAQLDWDVATVHQLSAFQPDVVIAADVLYCPEAIMSLVGVLRRLAACREHQRAPEVYVAFTVRNPETCQLFTTELGRAG
IRWEVEPRHEQKLFPYEEHLEMAMLNLTL*

Gene Symbol:EEF2KMT
Accession:XM_011522404
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 113
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKESTQGHRSYLLPSGGSVTLSESTAIISYGTTGLVTWDAALYLAEWAIENPAVFTNRTVLELGSGAGLTGLAICKMCR
PRAYIFSDCHSRVLEQLRGNVLLNGLSLEADIIAKLDSPRVTVAQLDWDVATVHQLSAFQPDVVIAADVLYCPEAIMSLV
GVLRRLAACREHQRAPEVYVAFTVRNPETCQLFTTELGRAGIRWEVEPRHEQKLFPYEEHLEMAMLNLTL*

Gene Symbol:EEF2KMT
Accession:NM_201598
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPEENAGTELLLQSFERRFLAARTLRSFPWQSLEAKLRDSSDSELLRDILHKTVKHPVCVKHPPSVKYARCFLSELIKK
PSGGSVTLSESTAIISYGTTGLVTWDAALYLAEWAIENPAVFTNRTVLELGSGAGLTGLAICKMCRPRAYIFSDCHSRVL
EQLRGNVLLNGLSLEADIIAKLDSPRVTVAQLDWDVATVHQLSAFQPDVVIAADVLYCPEAIMSLVGVLRRLAACREHQR
APEVYVAFTVRNPETCQLFTTELGRAGIRWEVEPRHEQKLFPYEEHLEMAMLNLTL*

Gene Symbol:EEF2KMT
Accession:XM_005255157
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 186
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPEENAGTELLLQSFERRFLAARTLRSFPWQSLEAKLRDSSDSELLRDILHKHEAVHTEPLDELYEALAETLMAKESTQ
GHRSYLLPSGGSVTLSESTAIISYGTTGLVTWDAALYLAEWAIENPAVFTNRTVLELGSGAGLTGLAICKMCRPRAYIFS
DCHSRVLEQLRGNVLLNGLSLEADIIAKLDSPRVTVAQLDWDVATVHQLSAFQPDVVIAADVLYCPEAIMSLVGVLRRLA
ACREHQRAPEVYVAFTVRNPETCQLFTTELGRAGIRWEVEPRHEQKLFPYEEHLEMAMLNLTL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004147116 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene EEF2KMT CLINVAR
OMIM 615263 CLINVAR