chr19:1221319:C> Detail (hg19) (STK11)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:1,221,319-1,221,319 |
| hg38 | chr19:1,221,320-1,221,320 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000455.4:c.842delC | NP_000446.1:p.Pro281ArgfsTer6 |
| Ensemble | ENST00000326873.12:c.842delC | ENST00000326873.12:p.Pro281ArgfsTer6 |
| ENST00000585465.3:c.842delC | ENST00000585465.3:p.Pro281ArgfsTer6 |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 3 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
2020/04/20 | colon, unspecified |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/04/20 | malignant neoplasm of rectum |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
Peutz-Jeghers syndrome |
germline
|
MGS000082
(TMGS000165) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Mutation View |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2024-02-12 | criteria provided, multiple submitters, no conflicts | Peutz-Jeghers syndrome |
germline
unknown
|
Detail |
|
Pathogenic
|
2021-06-04 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
Likely pathogenic
|
no assertion criteria provided | melanoma |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.664 | Peutz-Jeghers syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000455.5(STK11):c.842del (p.Pro281fs) AND Peutz-Jeghers syndrome | ClinVar | Detail |
| NM_000455.5(STK11):c.842del (p.Pro281fs) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000455.5(STK11):c.842del (p.Pro281fs) AND Melanoma | ClinVar | Detail |
| NA | 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
- rs121913321 dbSNP
- Genome
- hg19
- Position
- chr19:1,221,319-1,221,319
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- -
Genome browser