chr19:1220612:C>T 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	chr19:1,220,612-1,220,612
hg38	chr19:1,220,613-1,220,613 View the variant detail on this assembly version.

HGVS

STK11

Type	Transcript	Protein
RefSeq	NM_000455.4:c.630C>T	NP_000446.1:p.Cys210=
Ensemble	ENST00000326873.12:c.630C>T	ENST00000326873.12:p.Cys210=
	ENST00000585465.3:c.630C>T	ENST00000585465.3:p.Cys210=
	ENST00000652231.1:c.630C>T	ENST00000652231.1:p.Cys210=
	ENST00000714322.1:c.588C>T	ENST00000714322.1:p.Cys196=
	ENST00000714323.1:c.630C>T	ENST00000714323.1:p.Cys210=

Summary

MGeND

Clinical significance	Benign
Variant entry	6
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely benign
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	tgv60746630	TogoVar
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Benign	2018/01/13	breast, unspecified	germline	MGS000028 (TMGS000049)	Yukihide Momozawa	RIKEN	30287823
Benign	2021/03/19	control	germline	MGS000047 (TMGS000111)	Yukihide Momozawa Koichi Matsuda	RIKEN The University of Tokyo
Benign	2021/03/19	Colorectal	germline	MGS000050 (TMGS000114)	Yukihide Momozawa Koichi Matsuda	RIKEN The University of Tokyo

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely benign	2016-04-08	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Likely benign	2019-06-16	criteria provided, single submitter	Peutz-Jeghers syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000455.5(STK11):c.630C>T (p.Cys210=) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000455.5(STK11):c.630C>T (p.Cys210=) AND Peutz-Jeghers syndrome	ClinVar	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: rs786201213 dbSNP
Genome: hg19
Position: chr19:1,220,612-1,220,612
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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