chr19:1207163:A>T Detail (hg38) (STK11)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:1,207,162-1,207,162 View the variant detail on this assembly version. |
| hg38 | chr19:1,207,163-1,207,163 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000455.4:c.250A>T | NP_000446.1:p.Lys84Ter |
| Ensemble | ENST00000326873.12:c.250A>T | ENST00000326873.12:p.Lys84Ter |
| ENST00000585465.3:c.250A>T | ENST00000585465.3:p.Lys84Ter |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2023-06-06 | criteria provided, multiple submitters, no conflicts | Peutz-Jeghers syndrome |
germline
|
Detail |
|
Pathogenic
|
2020-01-23 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2021-04-29 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.664 | Peutz-Jeghers syndrome | NA | CLINVAR | Detail | |
| 0.120 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000455.5(STK11):c.250A>T (p.Lys84Ter) AND Peutz-Jeghers syndrome | ClinVar | Detail |
| NM_000455.5(STK11):c.250A>T (p.Lys84Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000455.5(STK11):c.250A>T (p.Lys84Ter) AND not provided | ClinVar | Detail |
| NA | DisGeNET | 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
- rs137853076 dbSNP
- Genome
- hg38
- Position
- chr19:1,207,163-1,207,163
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
Genome browser