chr13:46648094:C>T Detail (hg19) (CPB2, CPB2-AS1)

Information

Genome

Assembly Position
hg19 chr13:46,648,094-46,648,094
hg38 chr13:46,073,959-46,073,959 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001872.4:c.505G>A NP_001863.3:p.Ala169Thr
NM_001278541.1:c.505G>A NP_001265470.1:p.Ala169Thr
Ensemble ENST00000674625.1:c.505G>A ENST00000674625.1:p.Ala169Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.236
ToMMo:0.263
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.261

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 603101 OMIM
HGNC 2300 HGNC
Ensembl ENSG00000080618 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv48523056 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-10-17 criteria provided, single submitter CPB2-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Cardiovascular Diseases In interaction analysis we found statistical evidence of variant-gender interact... BeFree 18974842 Detail
0.065 Coronary heart disease In interaction analysis we found statistical evidence of variant-gender interact... BeFree 18974842 Detail
0.004 Coronary heart disease In interaction analysis we found statistical evidence of variant-gender interact... BeFree 18974842 Detail
0.011 Cardiovascular Diseases In interaction analysis we found statistical evidence of variant-gender interact... BeFree 18974842 Detail
0.003 Coronary heart disease In interaction analysis we found statistical evidence of variant-gender interact... BeFree 18974842 Detail
0.094 Cardiovascular Diseases In interaction analysis we found statistical evidence of variant-gender interact... BeFree 18974842 Detail
<0.001 Dyslipidemias Thrombin-activatable fibrinolysis inhibitor (TAFI) levels and its polymorphism r... BeFree 24631134 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001872.5(CPB2):c.505G>A (p.Ala169Thr) AND CPB2-related disorder ClinVar Detail
In interaction analysis we found statistical evidence of variant-gender interaction conferring risk ... DisGeNET Detail
In interaction analysis we found statistical evidence of variant-gender interaction conferring risk ... DisGeNET Detail
In interaction analysis we found statistical evidence of variant-gender interaction conferring risk ... DisGeNET Detail
In interaction analysis we found statistical evidence of variant-gender interaction conferring risk ... DisGeNET Detail
In interaction analysis we found statistical evidence of variant-gender interaction conferring risk ... DisGeNET Detail
In interaction analysis we found statistical evidence of variant-gender interaction conferring risk ... DisGeNET Detail
Thrombin-activatable fibrinolysis inhibitor (TAFI) levels and its polymorphism rs3742264 are associa... 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
-
Genome
hg19
Position
chr13:46,648,094-46,648,094
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1208
Mean of sample read depth (HGVD)
161.78
Standard deviation of sample read depth (HGVD)
76.61
Number of reference allele (HGVD)
1845
Number of alternative allele (HGVD)
571
Allele Frequency (HGVD)
0.236341059602649
Gene Symbol (HGVD)
CPB2
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))
rs3742264
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2629
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4407
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8612
East Asian Allele Counts (ExAC)
2246
East Asian Heterozygous Counts (ExAC)
1640
East Asian Homozygous Counts (ExAC)
303
East Asian Allele Frequency (ExAC)
0.2607988852763586
Chromosome Counts in All Race (ExAC)
120332
Allele Counts in All Race (ExAC)
37491
Heterozygous Counts in All Race (ExAC)
25399
Homozygous Counts in All Race (ExAC)
6046
Allele Frequency in All Race (ExAC)
0.31156300900841005
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