RGD:156047412 Rat Genome Database

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Variant: RGD:156047412 -  Homo sapiens

RGD ID: 156047412
ClinVar ID: CV2268750
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP2E1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 135,350,648
GRCh38 10 133,537,144
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.1049T>G
NG_008383.1:g.14782T>G
NC_000010.11:g.133537144T>G
NC_000010.10:g.135350648T>G
More... 		09/17/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CYP2E1
Accession:NM_000773
Location:EXON
Amino Acid Prediction: M to R (nonsynonymous)
Amino Acid Position: 350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSALGVTVALLVWAAFLLLVSMWRQVHSSWNLPPGPFPLPIIGNLFQLELKNIPKSFTRLAQRFGPVFTLYVGSQRMVVM
HGYKAVKEALLDYKDEFSGRGDLPAFHAHRDRGIIFNNGPTWKDIRRFSLTTLRNYGMGKQGNESRIQREAHFLLEALRK
TQGQPFDPTFLIGCAPCNVIADILFRKHFDYNDEKFLRLMYLFNENFHLLSTPWLQLYNNFPSFLHYLPGSHRKVIKNVA
EVKEYVSERVKEHHQSLDPNCPRDLTDCLLVEMEKEKHSAERLYTMDGITVTVADLFFAGTETTSTTLRYGLLILMKYPE
IEEKLHEEIDRVIGPSRIPAIKDRQEMPYRDAVVHEIQRFITLVPSNLPHEATRDTIFRGYLIPKGTVVVPTLDSVLYDN
QEFPDPEKFKPEHFLNENGKFKYSDYFKPFSTGKRVCAGEGLARMELFLLLCAILQHFNLKPLVDPKDIDLSPIHIGFGC
IPPRYKLCVIPRS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004124141 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CYP2E1 CLINVAR
OMIM 124040 CLINVAR