chr10:94780653:G>A Detail (hg38) (CYP2C19)

Information

Genome

Assembly Position
hg19 chr10:96,540,410-96,540,410 View the variant detail on this assembly version.
hg38 chr10:94,780,653-94,780,653

HGVS

Type Transcript Protein
RefSeq NM_000769.2:c.636G>A NP_000760.1:p.Trp212Ter
Ensemble ENST00000371321.9:c.636G>A ENST00000371321.9:p.Trp212Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.124
ToMMo:0.132
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.067

Prediction

ClinVar

Clinical Significance drug response
Review star
Show details
Links
Type Database ID Link
Gene MIM 124020 OMIM
HGNC 2621 HGNC
Ensembl ENSG00000165841 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40259652 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
drug response 2009-06-01 no assertion criteria provided Mephenytoin, poor metabolism of germline Detail
drug response 2009-06-01 no assertion criteria provided Proguanil, poor metabolism of germline Detail
Benign; other 2018-08-06 criteria provided, multiple submitters, no conflicts not provided germline Detail
drug response practice guideline germline Detail
drug response no assertion criteria provided Acute coronary syndrome biparental Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Non-small cell lung carcinoma CYP2C19*2(G681A), CYP2C19*3(G636A), CYP2D6*4(C188T), CYP2D6*2(C2938T, G4268C), C... BeFree 17450472 Detail
<0.001 Non-small cell lung carcinoma CYP2C19*2(G681A), CYP2C19*3(G636A), CYP2D6*4(C188T), CYP2D6*2(C2938T, G4268C), C... BeFree 17450472 Detail
0.002 Non-small cell lung carcinoma CYP2C19*2(G681A), CYP2C19*3(G636A), CYP2D6*4(C188T), CYP2D6*2(C2938T, G4268C), C... BeFree 17450472 Detail
<0.001 Non-small cell lung carcinoma CYP2C19*2(G681A), CYP2C19*3(G636A), CYP2D6*4(C188T), CYP2D6*2(C2938T, G4268C), C... BeFree 17450472 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000769.1(CYP2C19):c.636G>A (p.Trp212Ter) AND Mephenytoin, poor metabolism of ClinVar Detail
NM_000769.1(CYP2C19):c.636G>A (p.Trp212Ter) AND Proguanil, poor metabolism of ClinVar Detail
NM_000769.1(CYP2C19):c.636G>A (p.Trp212Ter) AND not provided ClinVar Detail
NM_000769.1(CYP2C19):c.636G>A (p.Trp212Ter) AND CYP2C19: no function ClinVar Detail
NM_000769.1(CYP2C19):c.636G>A (p.Trp212Ter) AND Acute coronary syndrome ClinVar Detail
CYP2C19*2(G681A), CYP2C19*3(G636A), CYP2D6*4(C188T), CYP2D6*2(C2938T, G4268C), CYP3AP1*3- G44A and C... DisGeNET Detail
CYP2C19*2(G681A), CYP2C19*3(G636A), CYP2D6*4(C188T), CYP2D6*2(C2938T, G4268C), CYP3AP1*3- G44A and C... DisGeNET Detail
CYP2C19*2(G681A), CYP2C19*3(G636A), CYP2D6*4(C188T), CYP2D6*2(C2938T, G4268C), CYP3AP1*3- G44A and C... DisGeNET Detail
CYP2C19*2(G681A), CYP2C19*3(G636A), CYP2D6*4(C188T), CYP2D6*2(C2938T, G4268C), CYP3AP1*3- G44A and C... 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
rs4986893 dbSNP
Genome
hg38
Position
chr10:94,780,653-94,780,653
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1188
Mean of sample read depth (HGVD)
155.16
Standard deviation of sample read depth (HGVD)
72.04
Number of reference allele (HGVD)
2081
Number of alternative allele (HGVD)
295
Allele Frequency (HGVD)
0.12415824915824916
Gene Symbol (HGVD)
CYP2C19
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))
rs4986893
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1325
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2221
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)
583
East Asian Heterozygous Counts (ExAC)
551
East Asian Homozygous Counts (ExAC)
16
East Asian Allele Frequency (ExAC)
0.06738326398520574
Chromosome Counts in All Race (ExAC)
121120
Allele Counts in All Race (ExAC)
667
Heterozygous Counts in All Race (ExAC)
635
Homozygous Counts in All Race (ExAC)
16
Allele Frequency in All Race (ExAC)
0.005506935270805813
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