chr7:113878379:C>A Detail (hg38) (PPP1R3A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:113,518,434-113,518,434 View the variant detail on this assembly version. |
| hg38 | chr7:113,878,379-113,878,379 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002711.3:c.2713G>T | NP_002702.2:p.Asp905Tyr |
| Ensemble | ENST00000284601.4:c.2713G>T | ENST00000284601.4:p.Asp905Tyr |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.678 |
| ToMMo:0.686 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.695 |
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
risk factor
|
1995-08-01 | no assertion criteria provided | Insulin resistance, susceptibility to |
germline
|
Detail |
Uncertain significance
|
2016-01-01 | criteria provided, single submitter | type 2 diabetes mellitus |
unknown
|
Detail |
Benign
|
2018-11-12 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Benign
|
2019-10-17 | criteria provided, single submitter | PPP1R3A-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.089 | Diabetes Mellitus, Non-Insulin-Dependent | In addition, we screened other reported T2D-associated polymorphisms: PIK3R1 rs3... | BeFree | 23133645 | Detail |
| 0.120 | Insulin resistance, susceptibility to | NA | CLINVAR | Detail | |
| 0.374 | Diabetes Mellitus, Non-Insulin-Dependent | The aim of this study was to investigate whether two common variants in the PPP1... | BeFree | 10868947 | Detail |
| <0.001 | Impaired glucose tolerance | The aim of this study was to investigate whether two common variants in the PPP1... | BeFree | 10868947 | Detail |
| 0.221 | Diabetes Mellitus, Non-Insulin-Dependent | The aim of this study was to investigate whether two common variants in the PPP1... | BeFree | 10868947 | Detail |
| 0.168 | Impaired glucose tolerance | The aim of this study was to investigate whether two common variants in the PPP1... | BeFree | 10868947 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_002711.4(PPP1R3A):c.2713G>T (p.Asp905Tyr) AND Insulin resistance, susceptibility to | ClinVar | Detail |
| NM_002711.4(PPP1R3A):c.2713G>T (p.Asp905Tyr) AND Type 2 diabetes mellitus | ClinVar | Detail |
| NM_002711.4(PPP1R3A):c.2713G>T (p.Asp905Tyr) AND not provided | ClinVar | Detail |
| NM_002711.4(PPP1R3A):c.2713G>T (p.Asp905Tyr) AND PPP1R3A-related disorder | ClinVar | Detail |
| In addition, we screened other reported T2D-associated polymorphisms: PIK3R1 rs3730089, IRS1 rs18012... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The aim of this study was to investigate whether two common variants in the PPP1R3 gene, Asp905Tyr a... | DisGeNET | Detail |
| The aim of this study was to investigate whether two common variants in the PPP1R3 gene, Asp905Tyr a... | DisGeNET | Detail |
| The aim of this study was to investigate whether two common variants in the PPP1R3 gene, Asp905Tyr a... | DisGeNET | Detail |
| The aim of this study was to investigate whether two common variants in the PPP1R3 gene, Asp905Tyr a... | 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
- rs1799999 dbSNP
- Genome
- hg38
- Position
- chr7:113,878,379-113,878,379
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 67.14
- Standard deviation of sample read depth (HGVD)
- 40.68
- Number of reference allele (HGVD)
- 780
- Number of alternative allele (HGVD)
- 1640
- Allele Frequency (HGVD)
- 0.6776859504132231
- Gene Symbol (HGVD)
- PPP1R3A
- 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))
- rs1799999
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6863
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 11501
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8612
- East Asian Allele Counts (ExAC)
- 5987
- East Asian Heterozygous Counts (ExAC)
- 1793
- East Asian Homozygous Counts (ExAC)
- 2097
- East Asian Allele Frequency (ExAC)
- 0.6951927542963307
- Chromosome Counts in All Race (ExAC)
- 120902
- Allele Counts in All Race (ExAC)
- 26485
- Heterozygous Counts in All Race (ExAC)
- 17251
- Homozygous Counts in All Race (ExAC)
- 4617
- Allele Frequency in All Race (ExAC)
- 0.2190617194091082
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