chr10:96827030:C>T Detail (hg19) (CYP2C8)

Information

Genome

Assembly Position
hg19 chr10:96,827,030-96,827,030
hg38 chr10:95,067,273-95,067,273 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001198854.1:c.110G>A NP_001185783.1:p.Arg37Lys
NM_001198853.1:c.206G>A NP_001185782.1:p.Arg69Lys
NM_000770.3:c.416G>A NP_000761.3:p.Arg139Lys
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 Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 601129 OMIM
HGNC 2622 HGNC
Ensembl ENSG00000138115 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40267568 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-06-20 no assertion criteria provided CYP2C8 HAPLOTYPE POLYMORPHISM germline Detail
Benign 2019-10-29 criteria provided, single submitter CYP2C8-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<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
0.005 Peptic Ulcer We investigated whether eight functional SNPs in the CYP2C family of genes--CYP2... BeFree 23267857 Detail
<0.001 Peptic Ulcer We investigated whether eight functional SNPs in the CYP2C family of genes--CYP2... BeFree 23267857 Detail
Annotation

Annotations

DescrptionSourceLinks
CYP2C8*3 AND CYP2C8 HAPLOTYPE POLYMORPHISM ClinVar Detail
NM_000770.3(CYP2C8):c.416G>A (p.Arg139Lys) AND CYP2C8-related disorder ClinVar 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
We investigated whether eight functional SNPs in the CYP2C family of genes--CYP2C8*3 (rs11572080 and... DisGeNET Detail
We investigated whether eight functional SNPs in the CYP2C family of genes--CYP2C8*3 (rs11572080 and... 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
rs11572080 dbSNP
Genome
hg19
Position
chr10:96,827,030-96,827,030
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1017
Mean of sample read depth (HGVD)
30.62
Standard deviation of sample read depth (HGVD)
38.31
Number of reference allele (HGVD)
2032
Number of alternative allele (HGVD)
2
Allele Frequency (HGVD)
9.832841691248771E-4
Gene Symbol (HGVD)
CYP2C8
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
3
East Asian Heterozygous Counts (ExAC)
3
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
3.4666050381326557E-4
Chromosome Counts in All Race (ExAC)
121390
Allele Counts in All Race (ExAC)
10022
Heterozygous Counts in All Race (ExAC)
8934
Homozygous Counts in All Race (ExAC)
544
Allele Frequency in All Race (ExAC)
0.08256034269709202
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