FERMT2 p.Gly536Asp (p.G536D) Detail (hg19) (FERMT2)

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

Genome

Assembly	Position
hg19	chr14:53,327,748-53,327,748
hg38	chr14:52,861,030-52,861,030

HGVS

FERMT2

Type	Transcript	Protein
RefSeq	NM_001135000.1:c.1607G>A	NP_001128472.1:p.Gly536Asp
	NM_006832.2:c.1603-565G>A
	NM_001134999.1:c.1607G>A	NP_001128471.1:p.Gly536Asp
Ensemble	ENST00000399304.7:c.1607G>A	ENST00000399304.7:p.Gly536Asp
	ENST00000395631.6:c.1603-565G>A
	ENST00000341590.8:c.1603-565G>A
	ENST00000343279.8:c.1607G>A	ENST00000343279.8:p.Gly536Asp
	ENST00000553373.5:c.1607G>A	ENST00000553373.5:p.Gly536Asp

Summary

MGeND

Clinical significance	Benign
Variant entry	0
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

FERMT2

Type	Database	ID	Link
Gene	MIM	607746	OMIM
	HGNC	15767	HGNC
	Ensembl	ENSG00000073712	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
Benign	2018/05/23	Aged, 100 and over	germline	MGS000013 (TMGS000027)	Hiroshi Mori	Osaka City University

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: chr14:53,327,748-53,327,748
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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