chr19:1221976:G> Detail (hg19) (STK11)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:1,221,976-1,221,976 |
| hg38 | chr19:1,221,977-1,221,977 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000455.4:c.891delG | NP_000446.1:p.Arg297SerfsTer39 |
| Ensemble | ENST00000585465.3:c.891delG | ENST00000585465.3:p.Arg297SerfsTer39 |
| ENST00000326873.12:c.891delG | ENST00000326873.12:p.Arg297SerfsTer39 |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| 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
|
other |
germline
|
MGS000082
(TMGS000165) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Mutation View |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2005-01-01 | no assertion criteria provided | Peutz-Jeghers syndrome |
unknown
|
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.891del (p.Arg297fs) AND Peutz-Jeghers 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
- rs587776661 dbSNP
- Genome
- hg19
- Position
- chr19:1,221,976-1,221,976
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- -
Genome browser