chr8:11643553:G>A Detail (hg19) (NEIL2)

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

Genome

Assembly	Position
hg19	chr8:11,643,553-11,643,553
hg38	chr8:11,786,044-11,786,044 View the variant detail on this assembly version.

HGVS

NEIL2

Type	Transcript	Protein
RefSeq	NM_145043.2:c.770G>A	NP_659480.1:p.Arg257Gln
	NM_001135747.1:c.587G>A	NP_001129219.1:p.Arg196Gln
	NM_001135746.1:c.770G>A	NP_001129218.1:p.Arg257Gln
	NM_001349442.1:c.770G>A	NP_001336371.1:p.Arg257Gln
	NM_001135748.1:c.422G>A	NP_001129220.1:p.Arg141Gln
Ensemble	ENST00000284503.7:c.770G>A	ENST00000284503.7:p.Arg257Gln
	ENST00000403422.7:c.587G>A	ENST00000403422.7:p.Arg196Gln
	ENST00000436750.7:c.770G>A	ENST00000436750.7:p.Arg257Gln
	ENST00000455213.6:c.770G>A	ENST00000455213.6:p.Arg257Gln
	ENST00000528323.5:c.422G>A	ENST00000528323.5:p.Arg141Gln

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

NEIL2

Type	Database	ID	Link
Gene	MIM	608933	OMIM
	HGNC	18956	HGNC
	Ensembl	ENSG00000154328	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Impaired cognition	Dispersed association effects involving MutYH(His324Gln), MutYH(Met22Val), PolB(...	BeFree	21884718	Detail
<0.001	Impaired cognition	Dispersed association effects involving MutYH(His324Gln), MutYH(Met22Val), PolB(...	BeFree	21884718	Detail

Annotation

Annotations

Descrption	Source	Links
Dispersed association effects involving MutYH(His324Gln), MutYH(Met22Val), PolB(Pro242Arg) and NEIL2...	DisGeNET	Detail
Dispersed association effects involving MutYH(His324Gln), MutYH(Met22Val), PolB(Pro242Arg) and NEIL2...	DisGeNET	Detail

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: chr8:11,643,553-11,643,553
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8644
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121302
Allele Counts in All Race (ExAC): 4
Heterozygous Counts in All Race (ExAC): 4
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.2975548630690345E-5

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