RGD:401766096 Rat Genome Database

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Variant: RGD:401766096 -  Homo sapiens

RGD ID: 401766096
ClinVar ID: CV2718006
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EZR  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 159,206,453
GRCh38 6 158,785,421
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001111077.2:c.355C>G
NM_003379.5:c.355C>G
NG_084353.1:g.1328G>C
NG_052952.1:g.39004C>G
More... 		05/18/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:EZR
Accession:NM_003379
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 119
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPKPINVRVTTMDAELEFAIQPNTTGKQLFDQVVKTIGLREVWYFGLHYVDNKGFPTWLKLDKKVSAQEVRKENPLQFKF
RAKFYPEDVAEELIQDITQKLFFLQVKEGILSDEIYCPAETAVLLGSYAVQAKFGDYNKEVHKSGYLSSERLIPQRVMDQ
HKLTRDQWEDRIQVWHAEHRGMLKDNAMLEYLKIAQDLEMYGINYFEIKNKKGTDLWLGVDALGLNIYEKDDKLTPKIGF
PWSEIRNISFNDKKFVIKPIDKKAPDFVFYAPRLRINKRILQLCMGNHELYMRRRKPDTIEVQQMKAQAREEKHQKQLER
QQLETEKKRRETVEREKEQMMREKEELMLRLQDYEEKTKKAERELSEQIQRALQLEEERKRAQEEAERLEADRMAALRAK
EELERQAVDQIKSQEQLAAELAEYTAKIALLEEARRRKEDEVEEWQHRAKEAQDDLVKTKEELHLVMTAPPPPPPPVYEP
VSYHVQESLQDEGAEPTGYSAELSSEGIRDDRNEEKRITEAEKNERVQRQLLTLSSELSQARDENKRTHNDIIHNENMRQ
GRDKYKTLRQIRQGNTKQRIDEFEAL*

Gene Symbol:EZR
Accession:NM_001111077
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 119
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPKPINVRVTTMDAELEFAIQPNTTGKQLFDQVVKTIGLREVWYFGLHYVDNKGFPTWLKLDKKVSAQEVRKENPLQFKF
RAKFYPEDVAEELIQDITQKLFFLQVKEGILSDEIYCPAETAVLLGSYAVQAKFGDYNKEVHKSGYLSSERLIPQRVMDQ
HKLTRDQWEDRIQVWHAEHRGMLKDNAMLEYLKIAQDLEMYGINYFEIKNKKGTDLWLGVDALGLNIYEKDDKLTPKIGF
PWSEIRNISFNDKKFVIKPIDKKAPDFVFYAPRLRINKRILQLCMGNHELYMRRRKPDTIEVQQMKAQAREEKHQKQLER
QQLETEKKRRETVEREKEQMMREKEELMLRLQDYEEKTKKAERELSEQIQRALQLEEERKRAQEEAERLEADRMAALRAK
EELERQAVDQIKSQEQLAAELAEYTAKIALLEEARRRKEDEVEEWQHRAKEAQDDLVKTKEELHLVMTAPPPPPPPVYEP
VSYHVQESLQDEGAEPTGYSAELSSEGIRDDRNEEKRITEAEKNERVQRQLLTLSSELSQARDENKRTHNDIIHNENMRQ
GRDKYKTLRQIRQGNTKQRIDEFEAL*

Gene Symbol:EZR
Accession:XM_011536110
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004321948 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene EZR CLINVAR
OMIM 123900 CLINVAR