chr10:96798749:T>C Detail (hg19) (CYP2C8)

Information

Genome

Assembly Position
hg19 chr10:96,798,749-96,798,749
hg38 chr10:95,038,992-95,038,992 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001198853.1:c.986A>G NP_001185782.1:p.Lys329Arg
NM_000770.3:c.1196A>G NP_000761.3:p.Lys399Arg
NM_001198854.1:c.890A>G NP_001185783.1:p.Lys297Arg
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 tgv40266682 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
association 2022-07-05 no assertion criteria provided Pulmonary disease, chronic obstructive, susceptibility to 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.1196A>G (p.Lys399Arg) AND Pulmonary disease, chronic obstructive, susceptibili... ClinVar Detail
NM_000770.3(CYP2C8):c.1196A>G (p.Lys399Arg) 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
chr10:96,798,749-96,798,749
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1205
Mean of sample read depth (HGVD)
46.26
Standard deviation of sample read depth (HGVD)
22.48
Number of reference allele (HGVD)
2408
Number of alternative allele (HGVD)
2
Allele Frequency (HGVD)
8.298755186721991E-4
Gene Symbol (HGVD)
CYP2C8
East Asian Chromosome Counts (ExAC)
8652
East Asian Allele Counts (ExAC)
3
East Asian Heterozygous Counts (ExAC)
3
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
3.4674063800277393E-4
Chromosome Counts in All Race (ExAC)
121366
Allele Counts in All Race (ExAC)
10028
Heterozygous Counts in All Race (ExAC)
8940
Homozygous Counts in All Race (ExAC)
544
Allele Frequency in All Race (ExAC)
0.08262610615823213
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