RGD:401876363 Rat Genome Database

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Variant: RGD:401876363 -  Homo sapiens

RGD ID: 401876363
ClinVar ID: CV2770539
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EEF2KMT  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 5,139,255
GRCh38 16 5,089,254
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.562G>A
NM_201598.4:c.643G>A
NM_201400.4:c.745G>A
NG_009202.1:g.22446C>T
More... 		08/15/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:EEF2KMT
Accession:XM_005255157
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPEENAGTELLLQSFERRFLAARTLRSFPWQSLEAKLRDSSDSELLRDILHKHEAVHTEPLDELYEALAETLMAKESTQ
GHRSYLLPSGGSVTLSESTAIISYGTTGLVTWDAALYLAEWAIENPAVFTNRTVLELGSGAGLTGLAICKMCRPRAYIFS
DCHSRVLEQLRGNVLLNGLSLEADITAKLDSPRVTVAQLDWDVATVHQLSAFQPDVVIAADMLYCPEAIMSLVGVLRRLA
ACREHQRAPEVYVAFTVRNPETCQLFTTELGRAGIRWEVEPRHEQKLFPYEEHLEMAMLNLTL*

Gene Symbol:EEF2KMT
Accession:NM_001289029
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 188
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPEENAGTELLLQSFERRFLAARTLRSFPWQSLEAKLRDSSDSELLRDILHKPSGGSVTLSESTAIISYGTTGLVTWDA
ALYLAEWAIENPAVFTNRTVLELGSGAGLTGLAICKMCRPRAYIFSDCHSRVLEQLRGNVLLNGLSLEADITAKLDSPRV
TVAQLDWDVATVHQLSAFQPDVVIAADMLYCPEAIMSLVGVLRRLAACREHQRAPEVYVAFTVRNPETCQLFTTELGRAG
IRWEVEPRHEQKLFPYEEHLEMAMLNLTL*

Gene Symbol:EEF2KMT
Accession:NM_201400
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 249
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPEENAGTELLLQSFERRFLAARTLRSFPWQSLEAKLRDSSDSELLRDILHKTVKHPVCVKHPPSVKYARCFLSELIKK
HEAVHTEPLDELYEALAETLMAKESTQGHRSYLLPSGGSVTLSESTAIISYGTTGLVTWDAALYLAEWAIENPAVFTNRT
VLELGSGAGLTGLAICKMCRPRAYIFSDCHSRVLEQLRGNVLLNGLSLEADITAKLDSPRVTVAQLDWDVATVHQLSAFQ
PDVVIAADMLYCPEAIMSLVGVLRRLAACREHQRAPEVYVAFTVRNPETCQLFTTELGRAGIRWEVEPRHEQKLFPYEEH
LEMAMLNLTL*

Gene Symbol:EEF2KMT
Accession:NM_201598
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 215
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPEENAGTELLLQSFERRFLAARTLRSFPWQSLEAKLRDSSDSELLRDILHKTVKHPVCVKHPPSVKYARCFLSELIKK
PSGGSVTLSESTAIISYGTTGLVTWDAALYLAEWAIENPAVFTNRTVLELGSGAGLTGLAICKMCRPRAYIFSDCHSRVL
EQLRGNVLLNGLSLEADITAKLDSPRVTVAQLDWDVATVHQLSAFQPDVVIAADMLYCPEAIMSLVGVLRRLAACREHQR
APEVYVAFTVRNPETCQLFTTELGRAGIRWEVEPRHEQKLFPYEEHLEMAMLNLTL*

Gene Symbol:EEF2KMT
Accession:XM_011522404
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 149
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKESTQGHRSYLLPSGGSVTLSESTAIISYGTTGLVTWDAALYLAEWAIENPAVFTNRTVLELGSGAGLTGLAICKMCR
PRAYIFSDCHSRVLEQLRGNVLLNGLSLEADITAKLDSPRVTVAQLDWDVATVHQLSAFQPDVVIAADMLYCPEAIMSLV
GVLRRLAACREHQRAPEVYVAFTVRNPETCQLFTTELGRAGIRWEVEPRHEQKLFPYEEHLEMAMLNLTL*

Gene Symbol:EEF2KMT
Accession:XM_005255158
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 149
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKESTQGHRSYLLPSGGSVTLSESTAIISYGTTGLVTWDAALYLAEWAIENPAVFTNRTVLELGSGAGLTGLAICKMCR
PRAYIFSDCHSRVLEQLRGNVLLNGLSLEADITAKLDSPRVTVAQLDWDVATVHQLSAFQPDVVIAADMLYCPEAIMSLV
GVLRRLAACREHQRAPEVYVAFTVRNPETCQLFTTELGRAGIRWEVEPRHEQKLFPYEEHLEMAMLNLTL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004347819 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene EEF2KMT CLINVAR
OMIM 615263 CLINVAR