chr17:61573761:T>C Detail (hg19) (ACE)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:61,573,761-61,573,761 |
| hg38 | chr17:63,496,400-63,496,400 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000789.3:c.3387T>C | NP_000780.1:p.Phe1129= |
| NM_001178057.1:c.1659-398T>C | ||
| NM_152830.2:c.1665T>C | NP_690043.1:p.Phe555= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.573 |
| ToMMo:0.578 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.606 |
Prediction
ClinVar
| Clinical Significance |
Benign
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
criteria provided, single submitter | not specified |
germline
|
Detail | |
|
Benign
|
2021-07-14 | criteria provided, multiple submitters, no conflicts | Renal tubular dysgenesis |
germline
|
Detail |
|
Benign
|
2024-01-31 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Likely benign
|
2021-11-11 | criteria provided, single submitter | Hemorrhage, intracerebral, susceptibility to,Renal tubular dysgenesis of genetic origin,Microvascular complications of diabetes, susceptibility to, 3 |
unknown
|
Detail |
|
Likely benign
|
2021-11-11 | criteria provided, single submitter | Hemorrhage, intracerebral, susceptibility to,Renal tubular dysgenesis of genetic origin,Microvascular complications of diabetes, susceptibility to, 3 |
unknown
|
Detail |
|
Likely benign
|
2021-11-11 | criteria provided, single submitter | Hemorrhage, intracerebral, susceptibility to,Renal tubular dysgenesis of genetic origin,Microvascular complications of diabetes, susceptibility to, 3 |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.440 | Hypertensive disease | When the cohort was stratified by sex, ACE rs4362 and AGT rs699 showed significa... | BeFree | 24622918 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000789.4(ACE):c.3387T>C (p.Phe1129=) AND not specified | ClinVar | Detail |
| NM_000789.4(ACE):c.3387T>C (p.Phe1129=) AND Renal tubular dysgenesis | ClinVar | Detail |
| NM_000789.4(ACE):c.3387T>C (p.Phe1129=) AND not provided | ClinVar | Detail |
| NM_000789.4(ACE):c.3387T>C (p.Phe1129=) AND multiple conditions | ClinVar | Detail |
| NM_000789.4(ACE):c.3387T>C (p.Phe1129=) AND multiple conditions | ClinVar | Detail |
| NM_000789.4(ACE):c.3387T>C (p.Phe1129=) AND multiple conditions | ClinVar | Detail |
| When the cohort was stratified by sex, ACE rs4362 and AGT rs699 showed significant associations with... | 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
- rs4362 dbSNP
- Genome
- hg19
- Position
- chr17:61,573,761-61,573,761
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1205
- Mean of sample read depth (HGVD)
- 92.97
- Standard deviation of sample read depth (HGVD)
- 44.06
- Number of reference allele (HGVD)
- 1027
- Number of alternative allele (HGVD)
- 1379
- Allele Frequency (HGVD)
- 0.5731504571903574
- Gene Symbol (HGVD)
- ACE
- 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))
- rs4362
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5785
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9696
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8624
- East Asian Allele Counts (ExAC)
- 5223
- East Asian Heterozygous Counts (ExAC)
- 2077
- East Asian Homozygous Counts (ExAC)
- 1573
- East Asian Allele Frequency (ExAC)
- 0.6056354359925789
- Chromosome Counts in All Race (ExAC)
- 121238
- Allele Counts in All Race (ExAC)
- 63449
- Heterozygous Counts in All Race (ExAC)
- 29450
- Homozygous Counts in All Race (ExAC)
- 16999
- Allele Frequency in All Race (ExAC)
- 0.5233425163727544
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