RGD:329363122 Rat Genome Database

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Variant: RGD:329363122 -  Homo sapiens

RGD ID: 329363122
ClinVar ID: CV2445874
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP2E1  LOC126861107  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 135,345,212
GRCh38 10 133,531,708
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000773.4:c.461T>G
NG_085606.1:g.421T>G
NG_008383.1:g.9346T>G
NC_000010.11:g.133531708T>G
More... 		01/10/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CYP2E1
Accession:NM_000773
Location:EXON
Amino Acid Prediction: L to R (nonsynonymous)
Amino Acid Position: 154
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSALGVTVALLVWAAFLLLVSMWRQVHSSWNLPPGPFPLPIIGNLFQLELKNIPKSFTRLAQRFGPVFTLYVGSQRMVVM
HGYKAVKEALLDYKDEFSGRGDLPAFHAHRDRGIIFNNGPTWKDIRRFSLTTLRNYGMGKQGNESRIQREAHFRLEALRK
TQGQPFDPTFLIGCAPCNVIADILFRKHFDYNDEKFLRLMYLFNENFHLLSTPWLQLYNNFPSFLHYLPGSHRKVIKNVA
EVKEYVSERVKEHHQSLDPNCPRDLTDCLLVEMEKEKHSAERLYTMDGITVTVADLFFAGTETTSTTLRYGLLILMKYPE
IEEKLHEEIDRVIGPSRIPAIKDRQEMPYMDAVVHEIQRFITLVPSNLPHEATRDTIFRGYLIPKGTVVVPTLDSVLYDN
QEFPDPEKFKPEHFLNENGKFKYSDYFKPFSTGKRVCAGEGLARMELFLLLCAILQHFNLKPLVDPKDIDLSPIHIGFGC
IPPRYKLCVIPRS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004270490 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CYP2E1 CLINVAR
  LOC126861107 CLINVAR
OMIM 124040 CLINVAR