chr19:1220487:G>A Detail (hg19) (STK11)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr19:1,220,487-1,220,487 |
hg38 | chr19:1,220,488-1,220,488 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000455.4:c.580G>A | NP_000446.1:p.Asp194Asn |
Ensemble | ENST00000326873.12:c.580G>A | ENST00000326873.12:p.Asp194Asn |
ENST00000585465.3:c.580G>A | ENST00000585465.3:p.Asp194Asn |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2024-02-12 | criteria provided, multiple submitters, no conflicts | Peutz-Jeghers syndrome |
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Detail |
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2016-05-13 | no assertion criteria provided | lung adenocarcinoma |
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Detail |
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2015-07-14 | no assertion criteria provided | Neoplasm |
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Detail |
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2021-06-23 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2020-01-01 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.664 | Peutz-Jeghers syndrome | NA | CLINVAR | Detail | |
0.120 | MELANOMA, CUTANEOUS MALIGNANT, 1 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000455.5(STK11):c.580G>A (p.Asp194Asn) AND Peutz-Jeghers syndrome | ClinVar | Detail |
NM_000455.5(STK11):c.580G>A (p.Asp194Asn) AND Lung adenocarcinoma | ClinVar | Detail |
NM_000455.5(STK11):c.580G>A (p.Asp194Asn) AND Neoplasm | ClinVar | Detail |
NM_000455.5(STK11):c.580G>A (p.Asp194Asn) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000455.5(STK11):c.580G>A (p.Asp194Asn) 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
- rs121913315 dbSNP
- Genome
- hg19
- Position
- chr19:1,220,487-1,220,487
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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