chr7:142459785:G>T Detail (hg19) (PRSS1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:142,459,785-142,459,785 |
| hg38 | chr7:142,751,934-142,751,934 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000311737.12:c.361G>T | ENST00000311737.12:p.Ala121Ser |
| ENST00000486171.5:c.403G>T | ENST00000486171.5:p.Ala135Ser |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.268 | Hereditary pancreatitis | A novel A121T mutation in human cationic trypsinogen associated with hereditary ... | BeFree | 18511571 | Detail |
| 0.414 | pancreatitis | This problematic trend is notably illustrated by two recent studies that classif... | BeFree | 20452997 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| A novel A121T mutation in human cationic trypsinogen associated with hereditary pancreatitis: functi... | DisGeNET | Detail |
| This problematic trend is notably illustrated by two recent studies that classified the p.A121T PRSS... | 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
- chr7:142,459,785-142,459,785
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8642
- East Asian Allele Counts (ExAC)
- 2
- East Asian Heterozygous Counts (ExAC)
- 2
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 2.3142791020597085E-4
- Chromosome Counts in All Race (ExAC)
- 121182
- Allele Counts in All Race (ExAC)
- 7
- Heterozygous Counts in All Race (ExAC)
- 7
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 5.7764354442078855E-5
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