chr10:94942290:C>T Detail (hg38) (CYP2C9)

Information

Genome

Assembly Position
hg19 chr10:96,702,047-96,702,047 View the variant detail on this assembly version.
hg38 chr10:94,942,290-94,942,290

HGVS

Type Transcript Protein
RefSeq NM_000771.3:c.430C>T NP_000762.2:p.Arg144Cys
Ensemble ENST00000260682.8:c.430C>T ENST00000260682.8:p.Arg144Cys
ENST00000461906.1:c.430C>T ENST00000461906.1:p.Arg144Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.001
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Likely benign; drug response; other
Review star
Show details
Links
Type Database ID Link
Gene MIM 601130 OMIM
HGNC 2623 HGNC
Ensembl ENSG00000138109 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40264157 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
drug response 2018-08-09 no assertion criteria provided germline Detail
drug response 2006-11-20 no assertion criteria provided germline Detail
Likely benign 2018-03-09 criteria provided, single submitter not specified germline Detail
other 2015-07-09 criteria provided, single submitter not provided germline Detail
drug response 2019-02-11 criteria provided, single submitter germline Detail
drug response 2019-02-11 criteria provided, single submitter germline Detail
drug response 2019-02-11 criteria provided, single submitter germline Detail
drug response 2020-09-24 no assertion criteria provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.010 Cerebrovascular accident Eight variants in five candidate genes were examined for the risk of stroke, inc... BeFree 24368493 Detail
0.115 Cerebrovascular accident Eight variants in five candidate genes were examined for the risk of stroke, inc... BeFree 24368493 Detail
0.091 Cerebrovascular accident Eight variants in five candidate genes were examined for the risk of stroke, inc... BeFree 24368493 Detail
<0.001 Acute gastrointestinal hemorrhage Individuals carrying the gene variants CYP2C8*3 (rs11572080; rs10509681), CYP2C9... BeFree 19422321 Detail
<0.001 Acute gastrointestinal hemorrhage Individuals carrying the gene variants CYP2C8*3 (rs11572080; rs10509681), CYP2C9... BeFree 19422321 Detail
<0.001 Craniofacial Abnormalities The goal of this study was to assess the effect of maternal genotype of function... BeFree 19952982 Detail
Annotation

Annotations

DescrptionSourceLinks
CYP2C9*2 AND Warfarin response ClinVar Detail
NM_000771.3(CYP2C9):c.[430C>T;1075A=] AND Warfarin response ClinVar Detail
CYP2C9*2 AND not specified ClinVar Detail
CYP2C9*2 AND not provided ClinVar Detail
CYP2C9*2 AND Flurbiprofen response ClinVar Detail
CYP2C9*2 AND Lesinurad response ClinVar Detail
CYP2C9*2 AND Piroxicam response ClinVar Detail
CYP2C9*2 AND Phenytoin response ClinVar Detail
Eight variants in five candidate genes were examined for the risk of stroke, including the SG13S32 (... DisGeNET Detail
Eight variants in five candidate genes were examined for the risk of stroke, including the SG13S32 (... DisGeNET Detail
Eight variants in five candidate genes were examined for the risk of stroke, including the SG13S32 (... DisGeNET Detail
Individuals carrying the gene variants CYP2C8*3 (rs11572080; rs10509681), CYP2C9*2 (rs1799853) or CY... DisGeNET Detail
Individuals carrying the gene variants CYP2C8*3 (rs11572080; rs10509681), CYP2C9*2 (rs1799853) or CY... DisGeNET Detail
The goal of this study was to assess the effect of maternal genotype of functional polymorphisms in ... 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
rs1799853 dbSNP
Genome
hg38
Position
chr10:94,942,290-94,942,290
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
773
Mean of sample read depth (HGVD)
21.27
Standard deviation of sample read depth (HGVD)
37.88
Number of reference allele (HGVD)
1544
Number of alternative allele (HGVD)
2
Allele Frequency (HGVD)
0.00129366106080207
Gene Symbol (HGVD)
CYP2C9
East Asian Chromosome Counts (ExAC)
8624
East Asian Allele Counts (ExAC)
3
East Asian Heterozygous Counts (ExAC)
3
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
3.478664192949907E-4
Chromosome Counts in All Race (ExAC)
121310
Allele Counts in All Race (ExAC)
11092
Heterozygous Counts in All Race (ExAC)
9790
Homozygous Counts in All Race (ExAC)
651
Allele Frequency in All Race (ExAC)
0.09143516610337153
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