chr19:1221995:C>T Detail (hg19) (STK11)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:1,221,995-1,221,995 |
| hg38 | chr19:1,221,996-1,221,996 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000455.4:c.910C>T | NP_000446.1:p.Arg304Trp |
| Ensemble | ENST00000326873.12:c.910C>T | ENST00000326873.12:p.Arg304Trp |
| ENST00000585465.3:c.910C>T | ENST00000585465.3:p.Arg304Trp |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 4 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
2020/04/20 | bronchus or lung, unspecified |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/04/20 | malignant neoplasm of rectum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/04/20 | malignant neoplasm of gallbladder |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/04/20 | bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2022-05-03 | criteria provided, single submitter | not provided |
germline
unknown
|
Detail |
|
Pathogenic
Likely pathogenic
|
2024-02-12 | criteria provided, multiple submitters, no conflicts | Peutz-Jeghers syndrome |
germline
somatic
unknown
|
Detail |
|
Pathogenic
|
2023-07-07 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000455.5(STK11):c.910C>T (p.Arg304Trp) AND not provided | ClinVar | Detail |
| NM_000455.5(STK11):c.910C>T (p.Arg304Trp) AND Peutz-Jeghers syndrome | ClinVar | Detail |
| NM_000455.5(STK11):c.910C>T (p.Arg304Trp) AND Hereditary cancer-predisposing syndrome | 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
- rs786201090 dbSNP
- Genome
- hg19
- Position
- chr19:1,221,995-1,221,995
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser