chr14:20457111:G>A Detail (hg38) (APEX1)

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

Genome

Assembly	Position
hg19	chr14:20,925,270-20,925,270 View the variant detail on this assembly version.
hg38	chr14:20,457,111-20,457,111

HGVS

APEX1

Type	Transcript	Protein
RefSeq	NM_001244249.1:c.560G>A	NP_001231178.1:p.Arg187His
	NM_001641.3:c.560G>A	NP_001632.2:p.Arg187His
	NM_080648.2:c.560G>A	NP_542379.1:p.Arg187His
	NM_080649.2:c.560G>A	NP_542380.1:p.Arg187His
Ensemble	ENST00000216714.8:c.560G>A	ENST00000216714.8:p.Arg187His
	ENST00000398030.8:c.560G>A	ENST00000398030.8:p.Arg187His
	ENST00000555414.5:c.560G>A	ENST00000555414.5:p.Arg187His
	ENST00000557054.1:c.28-12G>A

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:<0.001
	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

APEX1

Type	Database	ID	Link
Gene	MIM	107748	OMIM
	HGNC	587	HGNC
	Ensembl	ENSG00000100823	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv50037481	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
0.002	Non-small cell lung carcinoma	Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8...	BeFree	16195237	Detail
0.156	Non-small cell lung carcinoma	Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8...	BeFree	16195237	Detail
0.005	Non-small cell lung carcinoma	Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8...	BeFree	16195237	Detail
0.004	Non-small cell lung carcinoma	Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8...	BeFree	16195237	Detail
<0.001	Non-small cell lung carcinoma	Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8...	BeFree	16195237	Detail
<0.001	Non-small cell lung carcinoma	Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8...	BeFree	16195237	Detail
0.002	Non-small cell lung carcinoma	Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8...	BeFree	16195237	Detail
<0.001	Non-small cell lung carcinoma	Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8...	BeFree	16195237	Detail
0.001	Non-small cell lung carcinoma	Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8...	BeFree	16195237	Detail
0.012	Non-small cell lung carcinoma	Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8...	BeFree	16195237	Detail
0.004	Non-small cell lung carcinoma	Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8...	BeFree	16195237	Detail

Annotation

Annotations

Descrption	Source	Links
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G...	DisGeNET	Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G...	DisGeNET	Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G...	DisGeNET	Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G...	DisGeNET	Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G...	DisGeNET	Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G...	DisGeNET	Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G...	DisGeNET	Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G...	DisGeNET	Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G...	DisGeNET	Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G...	DisGeNET	Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G...	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: -
dbSNP: rs148298598 dbSNP
Genome: hg38
Position: chr14:20,457,111-20,457,111
Variant Type: snv
Reference Allele: G
Alternative Allele: A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): rs148298598
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 2
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760
East Asian Chromosome Counts (ExAC): 8652
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.155802126675913E-4
Chromosome Counts in All Race (ExAC): 121236
Allele Counts in All Race (ExAC): 22
Heterozygous Counts in All Race (ExAC): 20
Homozygous Counts in All Race (ExAC): 1
Allele Frequency in All Race (ExAC): 1.8146425154244613E-4

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