chr1:227076680:G>A Detail (hg19) (PSEN2)

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

Genome

Assembly	Position
hg19	chr1:227,076,680-227,076,680
hg38	chr1:226,888,979-226,888,979 View the variant detail on this assembly version.

HGVS

PSEN2

Type	Transcript	Protein
RefSeq	NM_000447.2:c.717G>A	NP_000438.2:p.Met239Ile
	NM_012486.2:c.717G>A	NP_036618.2:p.Met239Ile
Ensemble	ENST00000677599.1:c.717G>A	ENST00000677599.1:p.Met239Ile
	ENST00000676945.1:c.717G>A	ENST00000676945.1:p.Met239Ile
	ENST00000472139.2:c.285G>A	ENST00000472139.2:p.Met95Ile
	ENST00000679088.1:c.717G>A	ENST00000679088.1:p.Met239Ile
	ENST00000366783.8:c.717G>A	ENST00000366783.8:p.Met239Ile
	ENST00000678320.1:c.717G>A	ENST00000678320.1:p.Met239Ile
	ENST00000422240.6:c.717G>A	ENST00000422240.6:p.Met239Ile
	ENST00000677880.1:c.285G>A	ENST00000677880.1:p.Met95Ile
	ENST00000677414.1:c.717G>A	ENST00000677414.1:p.Met239Ile
	ENST00000366782.6:c.717G>A	ENST00000366782.6:p.Met239Ile
	ENST00000626989.3:c.717G>A	ENST00000626989.3:p.Met239Ile

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

PSEN2

Type	Database	ID	Link
Gene	MIM	600759	OMIM
	HGNC	9509	HGNC
	Ensembl	ENSG00000143801	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
Pathogenic	2000-01-01	no assertion criteria provided	Alzheimer disease 4	germline unknown	Detail
not provided		no assertion provided	not provided	not provided	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	Alzheimer disease 4	NA	CLINVAR		Detail
<0.001	Memory Loss	We reported a patient with early-onset FAD and the PSEN2 p.Met239Ile mutation, p...	BeFree	22531416	Detail
0.005	Familial Alzheimer Disease (FAD)	Variable expression of familial Alzheimer disease associated with presenilin 2 m...	BeFree	10822446	Detail
0.003	Amnesia	We reported a patient with early-onset FAD and the PSEN2 p.Met239Ile mutation, p...	BeFree	22531416	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000447.3(PSEN2):c.717G>A (p.Met239Ile) AND Alzheimer disease 4	ClinVar	Detail
NM_000447.3(PSEN2):c.717G>A (p.Met239Ile) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
We reported a patient with early-onset FAD and the PSEN2 p.Met239Ile mutation, presenting with sever...	DisGeNET	Detail
Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I.	DisGeNET	Detail
We reported a patient with early-onset FAD and the PSEN2 p.Met239Ile mutation, presenting with sever...	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: rs63749884 dbSNP
Genome: hg19
Position: chr1:227,076,680-227,076,680
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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