MEN1 p.Lys462GlufsTer14 (p.K462Efs*14) Detail (hg19) (MEN1)

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

Genome

Assembly	Position
hg19	chr11:64,572,092-64,572,092
hg38	chr11:64,804,620-64,804,620

HGVS

MEN1

Type	Transcript	Protein
RefSeq	NM_130804.2:c.1537_1538insC	NP_570716.1:p.Lys514GlufsTer14
	NM_000244.3:c.1546_1547insC	NP_000235.2:p.Lys517GlufsTer14
	NM_130799.2:c.1546_1547insC	NP_570711.1:p.Lys517GlufsTer14
	NM_130800.2:c.1546_1547insC	NP_570712.1:p.Lys517GlufsTer14
	NM_130801.2:c.1546_1547insC	NP_570713.1:p.Lys517GlufsTer14
Ensemble	ENST00000377316.6:c.1381_1382insC	ENST00000377316.6:p.Lys462GlufsTer14
	ENST00000377313.7:c.1561_1562insC	ENST00000377313.7:p.Lys522GlufsTer14
	ENST00000394376.7:c.1537_1538insC	ENST00000394376.7:p.Lys514GlufsTer14
	ENST00000312049.11:c.1546_1547insC	ENST00000312049.11:p.Lys517GlufsTer14
	ENST00000377326.7:c.1546_1547insC	ENST00000377326.7:p.Lys517GlufsTer14
	ENST00000413626.2:c.1546_1547insC	ENST00000413626.2:p.Lys517GlufsTer14
	ENST00000377321.5:c.1441_1442insC	ENST00000377321.5:p.Lys482GlufsTer14
	ENST00000440873.6:c.1546_1547insC	ENST00000440873.6:p.Lys517GlufsTer14
	ENST00000450708.7:c.1546_1547insC	ENST00000450708.7:p.Lys517GlufsTer14
	ENST00000315422.9:c.1546_1547insC	ENST00000315422.9:p.Lys517GlufsTer14
	ENST00000424912.2:c.1546_1547insC	ENST00000424912.2:p.Lys517GlufsTer14
	ENST00000429702.6:c.1546_1547insC	ENST00000429702.6:p.Lys517GlufsTer14
	ENST00000672304.1:c.1672_1673insC	ENST00000672304.1:p.Lys559GlufsTer14
	ENST00000710881.1:c.1561_1562insC	ENST00000710881.1:p.Lys522GlufsTer14

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	4
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

MEN1

Type	Database	ID	Link
Gene	MIM	613733	OMIM
	HGNC	7010	HGNC
	Ensembl	ENSG00000133895	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	2018/04/05	other digestive organs	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2018/04/05	multiple endocrine neoplasia, type 1	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2018/04/05	duodenum	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Pathogenic	2018/04/05	hyperparathyroidism, unspecified	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

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: -
Genome: hg19
Position: chr11:64,572,092-64,572,092
Variant Type: snv
Reference Allele: -
Alternative Allele: G

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