chr7:99365083:G>A Detail (hg19) (CYP3A4)

Information

Genome

Assembly Position
hg19 chr7:99,365,083-99,365,083
hg38 chr7:99,767,460-99,767,460 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001202855.2:c.671-202C>T
NM_017460.5:c.671-202C>T
Ensemble ENST00000336411.7:c.671-202C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.087
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance drug response
Review star
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 tgv30283359 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
drug response 2021-03-24 reviewed by expert panel germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Aortic Aneurysm, Thoracic We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome ... BeFree 25171434 Detail
<0.001 Aortic Aneurysm, Thoracic We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome ... BeFree 25171434 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_017460.6(CYP3A4):c.671-202C>T AND tacrolimus response - Metabolism/PK ClinVar Detail
We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709,... DisGeNET Detail
We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709,... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4646437 dbSNP
Genome
hg19
Position
chr7:99,365,083-99,365,083
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))
rs4646437
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0869
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1457
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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