chr7:142750582:A>G Detail (hg38) (PRSS1, TRB)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:142,458,433-142,458,433 View the variant detail on this assembly version. |
| hg38 | chr7:142,750,582-142,750,582 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000311737.12:c.68A>G | ENST00000311737.12:p.Lys23Arg |
| ENST00000486171.5:c.68A>G | ENST00000486171.5:p.Lys23Arg |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2021-08-03 | criteria provided, multiple submitters, no conflicts | Hereditary pancreatitis |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.414 | pancreatitis | Five mutations (R122H, N29I, A16V, D22G and K23R) in cationic trypsinogen and tw... | BeFree | 17148697 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_002769.5(PRSS1):c.68A>G (p.Lys23Arg) AND Hereditary pancreatitis | ClinVar | Detail |
| Five mutations (R122H, N29I, A16V, D22G and K23R) in cationic trypsinogen and two mutations (N34S an... | 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
- rs111033567 dbSNP
- Genome
- hg38
- Position
- chr7:142,750,582-142,750,582
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser