RGD:156015344 Rat Genome Database

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Variant: RGD:156015344 -  Homo sapiens

RGD ID: 156015344
ClinVar ID: CV2298782
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP2E1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 135,341,035
GRCh38 10 133,527,531
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008383.1:g.5169T>C
NC_000010.11:g.133527531T>C
NC_000010.10:g.135341035T>C
NM_000773.3:c.136T>C
More... 		09/14/2022 missense variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CYP2E1
Accession:NM_000773
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSALGVTVALLVWAAFLLLVSMWRQVHSSWNLPPGPFPLPIIGNLLQLELKNIPKSFTRLAQRFGPVFTLYVGSQRMVVM
HGYKAVKEALLDYKDEFSGRGDLPAFHAHRDRGIIFNNGPTWKDIRRFSLTTLRNYGMGKQGNESRIQREAHFLLEALRK
TQGQPFDPTFLIGCAPCNVIADILFRKHFDYNDEKFLRLMYLFNENFHLLSTPWLQLYNNFPSFLHYLPGSHRKVIKNVA
EVKEYVSERVKEHHQSLDPNCPRDLTDCLLVEMEKEKHSAERLYTMDGITVTVADLFFAGTETTSTTLRYGLLILMKYPE
IEEKLHEEIDRVIGPSRIPAIKDRQEMPYMDAVVHEIQRFITLVPSNLPHEATRDTIFRGYLIPKGTVVVPTLDSVLYDN
QEFPDPEKFKPEHFLNENGKFKYSDYFKPFSTGKRVCAGEGLARMELFLLLCAILQHFNLKPLVDPKDIDLSPIHIGFGC
IPPRYKLCVIPRS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004156339 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CYP2E1 CLINVAR
OMIM 124040 CLINVAR