chr14:73659540:C>A Detail (hg19) (PSEN1)

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

Genome

Assembly	Position
hg19	chr14:73,659,540-73,659,540
hg38	chr14:73,192,832-73,192,832 View the variant detail on this assembly version.

HGVS

PSEN1

Type	Transcript	Protein
RefSeq	NM_000021.3:c.737C>A	NP_000012.1:p.Ala246Glu
	NM_007318.2:c.737C>A	NP_015557.2:p.Ala246Glu
Ensemble	ENST00000700313.1:c.725C>A	ENST00000700313.1:p.Ala242Glu
	ENST00000557293.6:c.649+88C>A
	ENST00000700323.1:c.737C>A	ENST00000700323.1:p.Ala246Glu
	ENST00000700320.1:c.737C>A	ENST00000700320.1:p.Ala246Glu
	ENST00000700265.1:c.725C>A	ENST00000700265.1:p.Ala242Glu
	ENST00000700378.1:c.737C>A	ENST00000700378.1:p.Ala246Glu
	ENST00000394164.5:c.725C>A	ENST00000394164.5:p.Ala242Glu
	ENST00000700271.1:c.725C>A	ENST00000700271.1:p.Ala242Glu
	ENST00000700389.1:c.725C>A	ENST00000700389.1:p.Ala242Glu
	ENST00000700307.1:c.737C>A	ENST00000700307.1:p.Ala246Glu
	ENST00000700469.1:c.725C>A	ENST00000700469.1:p.Ala242Glu
	ENST00000700322.1:c.725C>A	ENST00000700322.1:p.Ala242Glu
	ENST00000324501.10:c.737C>A	ENST00000324501.10:p.Ala246Glu
	ENST00000700317.1:c.737C>A	ENST00000700317.1:p.Ala246Glu
	ENST00000700273.1:c.725C>A	ENST00000700273.1:p.Ala242Glu
	ENST00000700321.1:c.737C>A	ENST00000700321.1:p.Ala246Glu
	ENST00000700375.1:c.737C>A	ENST00000700375.1:p.Ala246Glu
	ENST00000556951.6:c.725C>A	ENST00000556951.6:p.Ala242Glu
	ENST00000553599.6:c.725C>A	ENST00000553599.6:p.Ala242Glu
	ENST00000700312.1:c.488C>A	ENST00000700312.1:p.Ala163Glu
	ENST00000700267.1:c.737C>A	ENST00000700267.1:p.Ala246Glu
	ENST00000700269.1:c.737C>A	ENST00000700269.1:p.Ala246Glu
	ENST00000357710.8:c.725C>A	ENST00000357710.8:p.Ala242Glu
	ENST00000700324.1:c.725C>A	ENST00000700324.1:p.Ala242Glu
	ENST00000557511.5:c.737C>A	ENST00000557511.5:p.Ala246Glu
	ENST00000700468.1:c.725C>A	ENST00000700468.1:p.Ala242Glu
	ENST00000700268.1:c.737C>A	ENST00000700268.1:p.Ala246Glu
	ENST00000700437.1:c.488C>A	ENST00000700437.1:p.Ala163Glu
	ENST00000554131.6:c.737C>A	ENST00000554131.6:p.Ala246Glu
	ENST00000700306.1:c.737C>A	ENST00000700306.1:p.Ala246Glu

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

PSEN1

Type	Database	ID	Link
Gene	MIM	104311	OMIM
	HGNC	9508	HGNC
	Ensembl	ENSG00000080815	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	1995-06-29	no assertion criteria provided	Alzheimer disease 3	germline	Detail
Pathogenic	2022-08-29	criteria provided, single submitter	not provided	not provided unknown	Detail
Pathogenic	2017-09-11	criteria provided, single submitter	Alzheimer disease 3,frontotemporal dementia,Pick disease,Acne inversa, familial, 3	germline	Detail
Pathogenic	2017-09-11	criteria provided, single submitter	Alzheimer disease 3,frontotemporal dementia,Pick disease,Acne inversa, familial, 3	germline	Detail
Pathogenic	2017-09-11	criteria provided, single submitter	Alzheimer disease 3,frontotemporal dementia,Pick disease,Acne inversa, familial, 3	germline	Detail
Pathogenic	2017-09-11	criteria provided, single submitter	Alzheimer disease 3,frontotemporal dementia,Pick disease,Acne inversa, familial, 3	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.320	Alzheimer disease, familial, type 3	NA	CLINVAR		Detail
0.121	amyloidosis	This strain, which over-expresses both the 695 amino acid isoform of human amylo...	BeFree	20630068	Detail
<0.001	Impaired glucose tolerance	Susceptibility to diet-induced obesity and glucose intolerance in the APP (SWE)/...	BeFree	21538175	Detail
0.004	Impaired glucose tolerance	Susceptibility to diet-induced obesity and glucose intolerance in the APP (SWE)/...	BeFree	21538175	Detail
<0.001	obesity	Susceptibility to diet-induced obesity and glucose intolerance in the APP (SWE)/...	BeFree	21538175	Detail
<0.001	Impaired glucose tolerance	Susceptibility to diet-induced obesity and glucose intolerance in the APP (SWE)/...	BeFree	21538175	Detail
0.087	obesity	Susceptibility to diet-induced obesity and glucose intolerance in the APP (SWE)/...	BeFree	21538175	Detail
0.011	obesity	Susceptibility to diet-induced obesity and glucose intolerance in the APP (SWE)/...	BeFree	21538175	Detail
<0.001	obesity	Susceptibility to diet-induced obesity and glucose intolerance in the APP (SWE)/...	BeFree	21538175	Detail
<0.001	Impaired glucose tolerance	Susceptibility to diet-induced obesity and glucose intolerance in the APP (SWE)/...	BeFree	21538175	Detail
0.006	Plaque, Amyloid	In this report, we demonstrate that transgenic animals that coexpress a FAD-link...	BeFree	9354339	Detail
0.389	Alzheimer's disease	We also introduced the human Abeta(42) monomer gene vaccine into AD double trans...	BeFree	15596606	Detail
0.389	Alzheimer's disease	Neurons from mutant hiPSC lines express PSEN1-A246E mutations themselves and sho...	BeFree	25027006	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) AND Alzheimer disease 3	ClinVar	Detail
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) AND not provided	ClinVar	Detail
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
This strain, which over-expresses both the 695 amino acid isoform of human amyloid precursor protein...	DisGeNET	Detail
Susceptibility to diet-induced obesity and glucose intolerance in the APP (SWE)/PSEN1 (A246E) mouse ...	DisGeNET	Detail
Susceptibility to diet-induced obesity and glucose intolerance in the APP (SWE)/PSEN1 (A246E) mouse ...	DisGeNET	Detail
Susceptibility to diet-induced obesity and glucose intolerance in the APP (SWE)/PSEN1 (A246E) mouse ...	DisGeNET	Detail
Susceptibility to diet-induced obesity and glucose intolerance in the APP (SWE)/PSEN1 (A246E) mouse ...	DisGeNET	Detail
Susceptibility to diet-induced obesity and glucose intolerance in the APP (SWE)/PSEN1 (A246E) mouse ...	DisGeNET	Detail
Susceptibility to diet-induced obesity and glucose intolerance in the APP (SWE)/PSEN1 (A246E) mouse ...	DisGeNET	Detail
Susceptibility to diet-induced obesity and glucose intolerance in the APP (SWE)/PSEN1 (A246E) mouse ...	DisGeNET	Detail
Susceptibility to diet-induced obesity and glucose intolerance in the APP (SWE)/PSEN1 (A246E) mouse ...	DisGeNET	Detail
In this report, we demonstrate that transgenic animals that coexpress a FAD-linked human PS1 variant...	DisGeNET	Detail
We also introduced the human Abeta(42) monomer gene vaccine into AD double transgenic mice APPswe/PS...	DisGeNET	Detail
Neurons from mutant hiPSC lines express PSEN1-A246E mutations themselves and show AD-like biochemica...	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: rs63750526 dbSNP
Genome: hg19
Position: chr14:73,659,540-73,659,540
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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