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

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

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
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
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

DescrptionSourceLinks
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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