chr10:96541616:G>C Detail (hg19) (CYP2C19)

Information

Genome

Assembly Position
hg19 chr10:96,541,616-96,541,616
hg38 chr10:94,781,859-94,781,859 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000769.2:c.681G>C NP_000760.1:p.Pro227=
Ensemble ENST00000371321.9:c.681G>C ENST00000371321.9:p.Pro227=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 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
<0.001 Angina, Unstable This study aimed to evaluate the impact of PON1 Q192R in parallel to that of CYP... BeFree 23993903 Detail
0.020 Malignant neoplasm of breast [Breast cancer treatment outcome with adjuvant tamoxifen relative to patient CYP... GAD 18024866 Detail
0.003 Angina, Unstable This study aimed to evaluate the impact of PON1 Q192R in parallel to that of CYP... BeFree 23993903 Detail
Annotation

Annotations

DescrptionSourceLinks
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
This study aimed to evaluate the impact of PON1 Q192R in parallel to that of CYP2C19*2 (rs4244285) o... DisGeNET Detail
[Breast cancer treatment outcome with adjuvant tamoxifen relative to patient CYP2D6 and CYP2C19 geno... DisGeNET Detail
This study aimed to evaluate the impact of PON1 Q192R in parallel to that of CYP2C19*2 (rs4244285) o... 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
rs4244285 dbSNP
Genome
hg19
Position
chr10:96,541,616-96,541,616
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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