chr19:1221320:C> Detail (hg38) (STK11)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr19:1,221,319-1,221,319
hg38	chr19:1,221,320-1,221,320

HGVS

STK11

Type	Transcript	Protein
RefSeq	NM_000455.4:c.842delC	NP_000446.1:p.Pro281ArgfsTer6
Ensemble	ENST00000326873.12:c.842delC	ENST00000326873.12:p.Pro281ArgfsTer6
	ENST00000585465.3:c.842delC	ENST00000585465.3:p.Pro281ArgfsTer6
	ENST00000652231.1:c.842delC	ENST00000652231.1:p.Pro281ArgfsTer6
	ENST00000714322.1:c.800delC	ENST00000714322.1:p.Pro267ArgfsTer6
	ENST00000714323.1:c.842delC	ENST00000714323.1:p.Pro281ArgfsTer6

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	3
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

STK11

Type	Database	ID	Link
Gene	MIM	602216	OMIM
	HGNC	11389	HGNC
	Ensembl	ENSG00000118046	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2016/09/05	carcinoma, non-small-cell lung	somatic	MGS000014 (TMGS000028)	Kohei Miyazono	Tokyo University
Pathogenic		colorectal neoplasms, hereditary nonpolyposis	somatic	MGS000043 (TMGS000096)	Kohei Miyazono	Tokyo University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-02-12	criteria provided, multiple submitters, no conflicts	Peutz-Jeghers syndrome	germline unknown	Detail
Pathogenic	2021-06-04	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic		no assertion criteria provided	melanoma	somatic	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.842del (p.Pro281fs) AND Peutz-Jeghers syndrome	ClinVar	Detail
NM_000455.5(STK11):c.842del (p.Pro281fs) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000455.5(STK11):c.842del (p.Pro281fs) AND Melanoma	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: rs121913321 dbSNP
Genome: hg38
Position: chr19:1,221,320-1,221,320
Variant Type: snv
Reference Allele: C
Alternative Allele: -

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