NFE2L2 p.Asp96His (p.D96H) Detail (hg19) (NFE2L2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr2:178,098,046-178,098,046
hg38	chr2:177,233,318-177,233,318

HGVS

NFE2L2

Type	Transcript	Protein
RefSeq	NM_001145412.3:c.286G>C	NP_001138884.1:p.Asp96His
	NM_001145413.3:c.286G>C	NP_001138885.1:p.Asp96His
	NM_001313900.1:c.286G>C	NP_001300829.1:p.Asp96His
	NM_001313901.1:c.286G>C	NP_001300830.1:p.Asp96His
	NM_001313904.1:c.286G>C	NP_001300833.1:p.Asp96His
	NM_001313902.1:c.334G>C	NP_001300831.1:p.Asp112His
	NM_001313903.1:c.334G>C	NP_001300832.1:p.Asp112His
	NM_006164.4:c.334G>C	NP_006155.2:p.Asp112His
Ensemble	ENST00000458603.2:c.286G>C	ENST00000458603.2:p.Asp96His
	ENST00000397063.9:c.286G>C	ENST00000397063.9:p.Asp96His
	ENST00000586532.6:c.331G>C	ENST00000586532.6:p.Asp111His
	ENST00000421929.6:c.286G>C	ENST00000421929.6:p.Asp96His
	ENST00000448782.6:c.286G>C	ENST00000448782.6:p.Asp96His
	ENST00000446151.6:c.286G>C	ENST00000446151.6:p.Asp96His
	ENST00000699412.1:c.295G>C	ENST00000699412.1:p.Asp99His
	ENST00000699431.1:c.286G>C	ENST00000699431.1:p.Asp96His
	ENST00000699434.1:c.286G>C	ENST00000699434.1:p.Asp96His
	ENST00000699302.1:c.286G>C	ENST00000699302.1:p.Asp96His
	ENST00000397062.8:c.334G>C	ENST00000397062.8:p.Asp112His
	ENST00000464747.5:c.286G>C	ENST00000464747.5:p.Asp96His
	ENST00000699220.1:c.334G>C	ENST00000699220.1:p.Asp112His
	ENST00000699223.1:c.115G>C	ENST00000699223.1:p.Asp39His
	ENST00000699224.1:c.334G>C	ENST00000699224.1:p.Asp112His
	ENST00000699264.1:c.334G>C	ENST00000699264.1:p.Asp112His
	ENST00000699265.1:c.331G>C	ENST00000699265.1:p.Asp111His
	ENST00000699296.1:c.334G>C	ENST00000699296.1:p.Asp112His
	ENST00000699297.1:c.286G>C	ENST00000699297.1:p.Asp96His
	ENST00000699298.1:c.286G>C	ENST00000699298.1:p.Asp96His
	ENST00000699300.1:c.312+687G>C
	ENST00000699301.1:c.331G>C	ENST00000699301.1:p.Asp111His
	ENST00000699303.1:c.331G>C	ENST00000699303.1:p.Asp111His
	ENST00000699304.1:c.331G>C	ENST00000699304.1:p.Asp111His
	ENST00000699305.1:c.331G>C	ENST00000699305.1:p.Asp111His
	ENST00000699307.1:c.334G>C	ENST00000699307.1:p.Asp112His
	ENST00000699328.1:c.286G>C	ENST00000699328.1:p.Asp96His
	ENST00000699330.1:c.286G>C	ENST00000699330.1:p.Asp96His
	ENST00000699331.1:c.331G>C	ENST00000699331.1:p.Asp111His
	ENST00000699342.1:c.334G>C	ENST00000699342.1:p.Asp112His
	ENST00000699343.1:c.286G>C	ENST00000699343.1:p.Asp96His
	ENST00000699344.1:c.295G>C	ENST00000699344.1:p.Asp99His
	ENST00000699345.1:c.331G>C	ENST00000699345.1:p.Asp111His
	ENST00000699346.1:c.472G>C	ENST00000699346.1:p.Asp158His
	ENST00000699347.1:c.286G>C	ENST00000699347.1:p.Asp96His
	ENST00000699348.1:c.331G>C	ENST00000699348.1:p.Asp111His
	ENST00000699350.1:c.331G>C	ENST00000699350.1:p.Asp111His
	ENST00000699351.1:c.286G>C	ENST00000699351.1:p.Asp96His
	ENST00000699404.1:c.331G>C	ENST00000699404.1:p.Asp111His
	ENST00000699405.1:c.334G>C	ENST00000699405.1:p.Asp112His
	ENST00000699406.1:c.331G>C	ENST00000699406.1:p.Asp111His
	ENST00000699407.1:c.264+687G>C
	ENST00000699408.1:c.286G>C	ENST00000699408.1:p.Asp96His
	ENST00000699409.1:c.286G>C	ENST00000699409.1:p.Asp96His
	ENST00000699410.1:c.331G>C	ENST00000699410.1:p.Asp111His
	ENST00000699411.1:c.295G>C	ENST00000699411.1:p.Asp99His
	ENST00000699435.1:c.331G>C	ENST00000699435.1:p.Asp111His

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

NFE2L2

Type	Database	ID	Link
Gene	MIM	600492	OMIM
	HGNC	7782	HGNC
	Ensembl	ENSG00000116044	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		Esophagus	somatic	MGS000038 (TMGS000091)	Manabu Muto Ichiro Kinoshita	Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
Genome: hg19
Position: chr2:178,098,046-178,098,046
Variant Type: snv
Reference Allele: C
Alternative Allele: G

Genome browser

NFE2L2 p.Asp96His (p.D96H) Detail (hg19) (NFE2L2)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Overlapped Transcript Coordinates

Overlapped Transcript