chr3:186572249:T>C Detail (hg19) (ADIPOQ)

Information

Genome

Assembly Position
hg19 chr3:186,572,249-186,572,249
hg38 chr3:186,854,460-186,854,460 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004797.3:c.491T>C NP_004788.1:p.Ile164Thr
NM_001177800.1:c.491T>C NP_001171271.1:p.Ile164Thr
Ensemble ENST00000320741.7:c.491T>C ENST00000320741.7:p.Ile164Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.008
ToMMo:0.008
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.005

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 605441 OMIM
HGNC 13633 HGNC
Ensembl ENSG00000181092 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv15449711 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.049 coronary artery disease The I164T mutation in the adiponectin gene was a common genetic background assoc... BeFree 15063429 Detail
0.185 Metabolic syndrome X The I164T mutation in the adiponectin gene was a common genetic background assoc... BeFree 15063429 Detail
Annotation

Annotations

DescrptionSourceLinks
The I164T mutation in the adiponectin gene was a common genetic background associated with the metab... DisGeNET Detail
The I164T mutation in the adiponectin gene was a common genetic background associated with the metab... 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
chr3:186,572,249-186,572,249
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
172.81
Standard deviation of sample read depth (HGVD)
76.33
Number of reference allele (HGVD)
2401
Number of alternative allele (HGVD)
19
Allele Frequency (HGVD)
0.007851239669421488
Gene Symbol (HGVD)
ADIPOQ
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))
rs185847354
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0079
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
133
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
46
East Asian Heterozygous Counts (ExAC)
46
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.005315461058470071
Chromosome Counts in All Race (ExAC)
121406
Allele Counts in All Race (ExAC)
47
Heterozygous Counts in All Race (ExAC)
47
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.8713078431049536E-4
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