chr19:1221975:A>G Detail (hg38) (STK11)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:1,221,974-1,221,974 View the variant detail on this assembly version. |
| hg38 | chr19:1,221,975-1,221,975 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000455.4:c.889A>G | NP_000446.1:p.Arg297Gly |
| Ensemble | ENST00000326873.12:c.889A>G | ENST00000326873.12:p.Arg297Gly |
| ENST00000585465.3:c.889A>G | ENST00000585465.3:p.Arg297Gly |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2024-02-13 | criteria provided, single submitter | Peutz-Jeghers syndrome |
unknown
|
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.889A>G (p.Arg297Gly) 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
- rs730881978 dbSNP
- Genome
- hg38
- Position
- chr19:1,221,975-1,221,975
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser