RGD:156215768 Rat Genome Database

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Variant: RGD:156215768 -  Homo sapiens

RGD ID: 156215768
ClinVar ID: CV2386013
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP2E1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 135,342,039
GRCh38 10 133,528,535
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.232G>A
NG_008383.1:g.6173G>A
NC_000010.11:g.133528535G>A
NC_000010.10:g.135342039G>A
More... 		08/30/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CYP2E1
Accession:NM_000773
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSALGVTVALLVWAAFLLLVSMWRQVHSSWNLPPGPFPLPIIGNLFQLELKNIPKSFTRLAQRFGPVFTLYVGSQRMMVM
HGYKAVKEALLDYKDEFSGRGDLPAFHAHRDRGIIFNNGPTWKDIRRFSLTTLRNYGMGKQGNESRIQREAHFLLEALRK
TQGQPFDPTFLIGCAPCNVIADILFRKHFDYNDEKFLRLMYLFNENFHLLSTPWLQLYNNFPSFLHYLPGSHRKVIKNVA
EVKEYVSERVKEHHQSLDPNCPRDLTDCLLVEMEKEKHSAERLYTMDGITVTVADLFFAGTETTSTTLRYGLLILMKYPE
IEEKLHEEIDRVIGPSRIPAIKDRQEMPYMDAVVHEIQRFITLVPSNLPHEATRDTIFRGYLIPKGTVVVPTLDSVLYDN
QEFPDPEKFKPEHFLNENGKFKYSDYFKPFSTGKRVCAGEGLARMELFLLLCAILQHFNLKPLVDPKDIDLSPIHIGFGC
IPPRYKLCVIPRS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004229079 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CYP2E1 CLINVAR
OMIM 124040 CLINVAR