chr19:1220701:C>G Detail (hg19) (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	chr19:1,220,701-1,220,701
hg38	chr19:1,220,702-1,220,702 View the variant detail on this assembly version.

HGVS

STK11

Type	Transcript	Protein
RefSeq	NM_000455.4:c.719C>G	NP_000446.1:p.Ser240Trp
Ensemble	ENST00000326873.12:c.719C>G	ENST00000326873.12:p.Ser240Trp
	ENST00000585465.3:c.719C>G	ENST00000585465.3:p.Ser240Trp
	ENST00000652231.1:c.719C>G	ENST00000652231.1:p.Ser240Trp
	ENST00000714322.1:c.677C>G	ENST00000714322.1:p.Ser226Trp
	ENST00000714323.1:c.719C>G	ENST00000714323.1:p.Ser240Trp

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

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
Likely pathogenic	2020-09-18	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Likely pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of pancreas,Malignant tumor of testis,Peutz-Jeghers syndrome	unknown	Detail
Likely pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of pancreas,Malignant tumor of testis,Peutz-Jeghers syndrome	unknown	Detail
Likely pathogenic	2018-10-31	criteria provided, single submitter	Carcinoma of pancreas,Malignant tumor of testis,Peutz-Jeghers syndrome	unknown	Detail
Likely pathogenic	2023-03-23	criteria provided, multiple submitters, no conflicts	Peutz-Jeghers syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.664	Peutz-Jeghers syndrome	NA	CLINVAR		Detail
0.120	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000455.5(STK11):c.719C>G (p.Ser240Trp) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000455.5(STK11):c.719C>G (p.Ser240Trp) AND multiple conditions	ClinVar	Detail
NM_000455.5(STK11):c.719C>G (p.Ser240Trp) AND multiple conditions	ClinVar	Detail
NM_000455.5(STK11):c.719C>G (p.Ser240Trp) AND multiple conditions	ClinVar	Detail
NM_000455.5(STK11):c.719C>G (p.Ser240Trp) AND Peutz-Jeghers syndrome	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: rs730881976 dbSNP
Genome: hg19
Position: chr19:1,220,701-1,220,701
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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