chr16:56981179:G>C Detail (hg38) (CETP)

Information

Genome

Assembly Position
hg19 chr16:57,015,091-57,015,091 View the variant detail on this assembly version.
hg38 chr16:56,981,179-56,981,179

HGVS

Type Transcript Protein
RefSeq NM_000078.2:c.1168G>C NP_000069.2:p.Ala390Pro
NM_001286085.1:c.988G>C NP_001273014.1:p.Ala330Pro
Ensemble ENST00000200676.8:c.1168G>C ENST00000200676.8:p.Ala390Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.001
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.006

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 118470 OMIM
HGNC 1869 HGNC
Ensembl ENSG00000087237 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv55624297 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-03-06 criteria provided, single submitter hyperalphalipoproteinemia 1 germline Detail
Benign 2024-01-31 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.086 coronary artery disease Two SNPs in the Apolipoprotein B (Apo B) gene [rs1042031 and rs1800479], one in ... BeFree 25134189 Detail
0.059 coronary artery disease Two SNPs in the Apolipoprotein B (Apo B) gene [rs1042031 and rs1800479], one in ... BeFree 25134189 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000078.3(CETP):c.1168G>C (p.Ala390Pro) AND Hyperalphalipoproteinemia 1 ClinVar Detail
NM_000078.3(CETP):c.1168G>C (p.Ala390Pro) AND not provided ClinVar Detail
Two SNPs in the Apolipoprotein B (Apo B) gene [rs1042031 and rs1800479], one in the Cholesterol Este... DisGeNET Detail
Two SNPs in the Apolipoprotein B (Apo B) gene [rs1042031 and rs1800479], one in the Cholesterol Este... 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
rs5880 dbSNP
Genome
hg38
Position
chr16:56,981,179-56,981,179
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
175.81
Standard deviation of sample read depth (HGVD)
79.48
Number of reference allele (HGVD)
2417
Number of alternative allele (HGVD)
3
Allele Frequency (HGVD)
0.0012396694214876034
Gene Symbol (HGVD)
CETP
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))
rs5880
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
48
East Asian Heterozygous Counts (ExAC)
48
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.005550416281221091
Chromosome Counts in All Race (ExAC)
121364
Allele Counts in All Race (ExAC)
6171
Heterozygous Counts in All Race (ExAC)
5663
Homozygous Counts in All Race (ExAC)
254
Allele Frequency in All Race (ExAC)
0.05084703866055832
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