chr19:1206950:C>T Detail (hg19) (STK11)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:1,206,950-1,206,950 |
| hg38 | chr19:1,206,951-1,206,951 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000455.4:c.38C>T | NP_000446.1:p.Thr13Met |
| Ensemble | ENST00000326873.12:c.38C>T | ENST00000326873.12:p.Thr13Met |
| ENST00000585465.3:c.38C>T | ENST00000585465.3:p.Thr13Met |
Summary
MGeND
| Clinical significance |
Uncertain significance
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Uncertain significance
|
2021/03/19 | control |
germline
|
MGS000047
(TMGS000111) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2023-12-12 | criteria provided, multiple submitters, no conflicts | Peutz-Jeghers syndrome |
germline
|
Detail |
|
Uncertain significance
|
2022-03-08 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000455.5(STK11):c.38C>T (p.Thr13Met) AND Peutz-Jeghers syndrome | ClinVar | Detail |
| NM_000455.5(STK11):c.38C>T (p.Thr13Met) AND Hereditary cancer-predisposing syndrome | ClinVar | 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
- rs1599914790 dbSNP
- Genome
- hg19
- Position
- chr19:1,206,950-1,206,950
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser