chr19:1220701:TCGG> 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	chr19:1,220,700-1,220,703
hg38	chr19:1,220,701-1,220,704

HGVS

STK11

Type	Transcript	Protein
RefSeq	NM_000455.4:c.718_721delTCGG	NP_000446.1:p.Ser240LeufsTer46
Ensemble	ENST00000326873.12:c.718_721delTCGG	ENST00000326873.12:p.Ser240LeufsTer46
	ENST00000585465.3:c.718_721delTCGG	ENST00000585465.3:p.Ser240LeufsTer46
	ENST00000652231.1:c.718_721delTCGG	ENST00000652231.1:p.Ser240LeufsTer46
	ENST00000714322.1:c.676_679delTCGG	ENST00000714322.1:p.Ser226LeufsTer46
	ENST00000714323.1:c.718_721delTCGG	ENST00000714323.1:p.Ser240LeufsTer46

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1998-01-01	no assertion criteria provided	Peutz-Jeghers syndrome	germline	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.718_721del (p.Ser240fs) 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: rs587776657 dbSNP
Genome: hg38
Position: chr19:1,220,701-1,220,704
Variant Type: snv
Reference Allele: TCGG
Alternative Allele: -

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