chr19:1221312:TG> 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	chr19:1,221,311-1,221,312
hg38	chr19:1,221,312-1,221,313

HGVS

STK11

Type	Transcript	Protein
RefSeq	NM_000455.4:c.834_835delTG	NP_000446.1:p.Cys278TrpfsTer6
Ensemble	ENST00000326873.12:c.834_835delTG	ENST00000326873.12:p.Cys278TrpfsTer6
	ENST00000585465.3:c.834_835delTG	ENST00000585465.3:p.Cys278TrpfsTer6
	ENST00000652231.1:c.834_835delTG	ENST00000652231.1:p.Cys278TrpfsTer6
	ENST00000714322.1:c.792_793delTG	ENST00000714322.1:p.Cys264TrpfsTer6
	ENST00000714323.1:c.834_835delTG	ENST00000714323.1:p.Cys278TrpfsTer6

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.664	Peutz-Jeghers syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
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: rs587776659 dbSNP
Genome: hg38
Position: chr19:1,221,312-1,221,313
Variant Type: snv
Reference Allele: TG
Alternative Allele: -

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