chr7:99358524:A>G Detail (hg19) (CYP3A4)

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

Information

Genome

Assembly	Position
hg19	chr7:99,358,524-99,358,524
hg38	chr7:99,760,901-99,760,901 View the variant detail on this assembly version.

HGVS

CYP3A4

Type	Transcript	Protein
RefSeq	NM_001202855.2:c.1427T>C	NP_001189784.1:p.Met476Thr
	NM_017460.5:c.1427T>C	NP_059488.2:p.Met476Thr
Ensemble	ENST00000336411.7:c.1427T>C	ENST00000336411.7:p.Met476Thr
	ENST00000354593.6:c.884T>C	ENST00000354593.6:p.Met295Thr
	ENST00000651514.1:c.1334T>C	ENST00000651514.1:p.Met445Thr
	ENST00000652018.1:c.1187T>C	ENST00000652018.1:p.Met396Thr

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

CYP3A4

Type	Database	ID	Link
Gene	MIM	124010	OMIM
	HGNC	2637	HGNC
	Ensembl	ENSG00000160868	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
0.004	breast carcinoma	In multivariate analyses, we observed a significantly decreased risk of breast c...	BeFree	19214745	Detail
0.050	Malignant neoplasm of breast	In multivariate analyses, we observed a significantly decreased risk of breast c...	BeFree	19214745	Detail
0.050	Malignant neoplasm of breast	[In multivariate analyses, we observed a significantly decreased risk of breast ...	GAD	19214745	Detail

Annotation

Annotations

Descrption	Source	Links
In multivariate analyses, we observed a significantly decreased risk of breast cancer associated wit...	DisGeNET	Detail
In multivariate analyses, we observed a significantly decreased risk of breast cancer associated wit...	DisGeNET	Detail
[In multivariate analyses, we observed a significantly decreased risk of breast cancer associated wi...	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: chr7:99,358,524-99,358,524
Variant Type: snv
Reference Allele: A
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8640
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): 121384
Allele Counts in All Race (ExAC): 679
Heterozygous Counts in All Race (ExAC): 669
Homozygous Counts in All Race (ExAC): 5
Allele Frequency in All Race (ExAC): 0.005593817966124036

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