chr1:226888977:A>G Detail (hg38) (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	chr1:227,076,678-227,076,678 View the variant detail on this assembly version.
hg38	chr1:226,888,977-226,888,977

HGVS

PSEN2

Type	Transcript	Protein
RefSeq	NM_000447.2:c.715A>G	NP_000438.2:p.Met239Val
	NM_012486.2:c.715A>G	NP_036618.2:p.Met239Val
Ensemble	ENST00000366782.6:c.715A>G	ENST00000366782.6:p.Met239Val
	ENST00000366783.8:c.715A>G	ENST00000366783.8:p.Met239Val
	ENST00000422240.6:c.715A>G	ENST00000422240.6:p.Met239Val
	ENST00000472139.2:c.283A>G	ENST00000472139.2:p.Met95Val
	ENST00000626989.3:c.715A>G	ENST00000626989.3:p.Met239Val
	ENST00000676945.1:c.715A>G	ENST00000676945.1:p.Met239Val
	ENST00000677414.1:c.715A>G	ENST00000677414.1:p.Met239Val
	ENST00000677599.1:c.715A>G	ENST00000677599.1:p.Met239Val
	ENST00000677880.1:c.283A>G	ENST00000677880.1:p.Met95Val
	ENST00000678320.1:c.715A>G	ENST00000678320.1:p.Met239Val
	ENST00000679088.1:c.715A>G	ENST00000679088.1:p.Met239Val

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	1995-08-31	no assertion criteria provided	Alzheimer disease 4	germline	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
0.168	Impaired glucose tolerance	Oral glucose tolerance tests on subjects with the presenilin 2 Met239Val mutatio...	BeFree	10362543	Detail
0.313	Alzheimer's disease	These observations indicate that the Alzheimer kindred FLO10 associated with M23...	BeFree	15055444	Detail
<0.001	Impaired glucose tolerance	Oral glucose tolerance tests on subjects with the presenilin 2 Met239Val mutatio...	BeFree	10362543	Detail
0.360	Alzheimer disease 4	Familial Alzheimer's disease in kindreds with missense mutations in a gene on ch...	UNIPROT	7651536	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000447.3(PSEN2):c.715A>G (p.Met239Val) AND Alzheimer disease 4	ClinVar	Detail
NM_000447.3(PSEN2):c.715A>G (p.Met239Val) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
Oral glucose tolerance tests on subjects with the presenilin 2 Met239Val mutation unaffected by earl...	DisGeNET	Detail
These observations indicate that the Alzheimer kindred FLO10 associated with M239V mutation of prese...	DisGeNET	Detail
Oral glucose tolerance tests on subjects with the presenilin 2 Met239Val mutation unaffected by earl...	DisGeNET	Detail
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related t...	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: rs28936379 dbSNP
Genome: hg38
Position: chr1:226,888,977-226,888,977
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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