chr15:74749801:C>G Detail (hg38) (CYP1A2)

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

Genome

Assembly	Position
hg19	chr15:75,042,142-75,042,142 View the variant detail on this assembly version.
hg38	chr15:74,749,801-74,749,801

HGVS

CYP1A2

Type	Transcript	Protein
RefSeq	NM_000761.4:c.63C>G	NP_000752.2:p.Phe21Leu
Ensemble	ENST00000343932.5:c.63C>G	ENST00000343932.5:p.Phe21Leu

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:0.002

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

CYP1A2

Type	Database	ID	Link
Gene	MIM	124060	OMIM
	HGNC	2596	HGNC
	Ensembl	ENSG00000140505	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv392357374	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
0.030	Malignant neoplasm of breast	The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and C...	BeFree	21329464	Detail
0.007	breast carcinoma	The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and C...	BeFree	21329464	Detail
0.036	Malignant neoplasm of breast	The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and C...	BeFree	21329464	Detail
0.006	breast carcinoma	The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and C...	BeFree	21329464	Detail

Annotation

Annotations

Descrption	Source	Links
The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and CYP1A2 exon 2 phenyla...	DisGeNET	Detail
The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and CYP1A2 exon 2 phenyla...	DisGeNET	Detail
The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and CYP1A2 exon 2 phenyla...	DisGeNET	Detail
The results of the study suggest that NQO1 exon 6 proline187serine (C609T) and CYP1A2 exon 2 phenyla...	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: hg38
Position: chr15:74,749,801-74,749,801
Variant Type: snv
Reference Allele: C
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8604
East Asian Allele Counts (ExAC): 21
East Asian Heterozygous Counts (ExAC): 21
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0024407252440725243
Chromosome Counts in All Race (ExAC): 112686
Allele Counts in All Race (ExAC): 21
Heterozygous Counts in All Race (ExAC): 21
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.8635855385762206E-4

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