chr7:82453708:A>C Detail (hg19) (PCLO)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:82,453,708-82,453,708 |
hg38 | chr7:82,824,392-82,824,392 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_033026.5:c.14440T>G | NP_149015.2:p.Ser4814Ala |
NM_014510.2:c.14440T>G | NP_055325.2:p.Ser4814Ala | |
Ensemble | ENST00000333891.14:c.14440T>G | ENST00000333891.14:p.Ser4814Ala |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.602 |
ToMMo:0.601 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.699 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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no assertion criteria provided | not specified |
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Detail | |
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2021-09-05 | criteria provided, single submitter | pontocerebellar hypoplasia type 3 |
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Detail |
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2024-02-01 | criteria provided, single submitter | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.130 | major depressive disorder | Recent genome-wide association studies have pointed to single-nucleotide polymor... | BeFree | 24643163 | Detail |
0.003 | major depressive disorder | Recent genome-wide association studies have pointed to single-nucleotide polymor... | BeFree | 24643163 | Detail |
0.003 | Unipolar Depression | Recent genome-wide association studies have pointed to single-nucleotide polymor... | BeFree | 24643163 | Detail |
0.002 | Mood Disorders | Recent genome-wide association studies have pointed to single-nucleotide polymor... | BeFree | 24643163 | Detail |
<0.001 | Mood Disorders | Recent genome-wide association studies have pointed to single-nucleotide polymor... | BeFree | 24643163 | Detail |
0.002 | Unipolar Depression | Recent genome-wide association studies have pointed to single-nucleotide polymor... | BeFree | 24643163 | Detail |
0.130 | major depressive disorder | NA | GAD | Detail | |
0.002 | Unipolar Depression | Although we did not take into account rare variants, we conclude that our result... | BeFree | 24278217 | Detail |
0.002 | Unipolar Depression | Recent genetic studies showed evidence for a role of the single-nucleotide polym... | BeFree | 22832399 | Detail |
0.002 | Unipolar Depression | PCLO rs2522833 modulates HPA system response to antidepressant treatment in majo... | BeFree | 20701824 | Detail |
0.002 | Mental Depression | We aimed to validate the association of single-nucleotide polymorphism (SNP) rs2... | BeFree | 19942622 | Detail |
0.130 | major depressive disorder | Although we did not take into account rare variants, we conclude that our result... | BeFree | 24278217 | Detail |
0.130 | major depressive disorder | PCLO rs2522833 modulates HPA system response to antidepressant treatment in majo... | BeFree | 20701824 | Detail |
0.130 | major depressive disorder | Recent genetic studies showed evidence for a role of the single-nucleotide polym... | BeFree | 22832399 | Detail |
0.002 | Unipolar Depression | A genome-wide association study implicated the polymorphism rs2522833 in the pic... | BeFree | 22832909 | Detail |
0.130 | major depressive disorder | A genome-wide association study implicated the polymorphism rs2522833 in the pic... | BeFree | 22832909 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_033026.6(PCLO):c.14440T>G (p.Ser4814Ala) AND not specified | ClinVar | Detail |
NM_033026.6(PCLO):c.14440T>G (p.Ser4814Ala) AND Pontocerebellar hypoplasia type 3 | ClinVar | Detail |
NM_033026.6(PCLO):c.14440T>G (p.Ser4814Ala) AND not provided | ClinVar | Detail |
Recent genome-wide association studies have pointed to single-nucleotide polymorphisms (SNPs) in gen... | DisGeNET | Detail |
Recent genome-wide association studies have pointed to single-nucleotide polymorphisms (SNPs) in gen... | DisGeNET | Detail |
Recent genome-wide association studies have pointed to single-nucleotide polymorphisms (SNPs) in gen... | DisGeNET | Detail |
Recent genome-wide association studies have pointed to single-nucleotide polymorphisms (SNPs) in gen... | DisGeNET | Detail |
Recent genome-wide association studies have pointed to single-nucleotide polymorphisms (SNPs) in gen... | DisGeNET | Detail |
Recent genome-wide association studies have pointed to single-nucleotide polymorphisms (SNPs) in gen... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Although we did not take into account rare variants, we conclude that our results provide further su... | DisGeNET | Detail |
Recent genetic studies showed evidence for a role of the single-nucleotide polymorphism rs2522833 wi... | DisGeNET | Detail |
PCLO rs2522833 modulates HPA system response to antidepressant treatment in major depressive disorde... | DisGeNET | Detail |
We aimed to validate the association of single-nucleotide polymorphism (SNP) rs2522833 in the PCLO g... | DisGeNET | Detail |
Although we did not take into account rare variants, we conclude that our results provide further su... | DisGeNET | Detail |
PCLO rs2522833 modulates HPA system response to antidepressant treatment in major depressive disorde... | DisGeNET | Detail |
Recent genetic studies showed evidence for a role of the single-nucleotide polymorphism rs2522833 wi... | DisGeNET | Detail |
A genome-wide association study implicated the polymorphism rs2522833 in the piccolo (PCLO) gene--in... | DisGeNET | Detail |
A genome-wide association study implicated the polymorphism rs2522833 in the piccolo (PCLO) gene--in... | 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
- rs2522833 dbSNP
- Genome
- hg19
- Position
- chr7:82,453,708-82,453,708
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1202
- Mean of sample read depth (HGVD)
- 37.21
- Standard deviation of sample read depth (HGVD)
- 21.81
- Number of reference allele (HGVD)
- 957
- Number of alternative allele (HGVD)
- 1447
- Allele Frequency (HGVD)
- 0.6019134775374376
- Gene Symbol (HGVD)
- PCLO
- 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))
- rs2522833
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6013
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10077
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8594
- East Asian Allele Counts (ExAC)
- 6009
- East Asian Heterozygous Counts (ExAC)
- 1775
- East Asian Homozygous Counts (ExAC)
- 2117
- East Asian Allele Frequency (ExAC)
- 0.6992087502909007
- Chromosome Counts in All Race (ExAC)
- 120346
- Allele Counts in All Race (ExAC)
- 53331
- Heterozygous Counts in All Race (ExAC)
- 27333
- Homozygous Counts in All Race (ExAC)
- 12999
- Allele Frequency in All Race (ExAC)
- 0.4431472587373074
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