chr14:73664808:A>C 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	chr14:73,664,808-73,664,808
hg38	chr14:73,198,100-73,198,100 View the variant detail on this assembly version.

HGVS

PSEN1

Type	Transcript	Protein
RefSeq	NM_000021.3:c.839A>C	NP_000012.1:p.Glu280Ala
	NM_007318.2:c.839A>C	NP_015557.2:p.Glu280Ala
Ensemble	ENST00000357710.8:c.827A>C	ENST00000357710.8:p.Glu276Ala
	ENST00000324501.10:c.839A>C	ENST00000324501.10:p.Glu280Ala
	ENST00000394164.5:c.827A>C	ENST00000394164.5:p.Glu276Ala
	ENST00000557511.5:c.839A>C	ENST00000557511.5:p.Glu280Ala
	ENST00000553599.6:c.827A>C	ENST00000553599.6:p.Glu276Ala
	ENST00000554131.6:c.839A>C	ENST00000554131.6:p.Glu280Ala
	ENST00000556951.6:c.827A>C	ENST00000556951.6:p.Glu276Ala
	ENST00000557293.6:c.719A>C	ENST00000557293.6:p.Glu240Ala
	ENST00000700265.1:c.827A>C	ENST00000700265.1:p.Glu276Ala
	ENST00000700267.1:c.839A>C	ENST00000700267.1:p.Glu280Ala
	ENST00000700268.1:c.839A>C	ENST00000700268.1:p.Glu280Ala
	ENST00000700269.1:c.839A>C	ENST00000700269.1:p.Glu280Ala
	ENST00000700271.1:c.827A>C	ENST00000700271.1:p.Glu276Ala
	ENST00000700273.1:c.827A>C	ENST00000700273.1:p.Glu276Ala
	ENST00000700306.1:c.839A>C	ENST00000700306.1:p.Glu280Ala
	ENST00000700307.1:c.769+5236A>C
	ENST00000700312.1:c.590A>C	ENST00000700312.1:p.Glu197Ala
	ENST00000700313.1:c.827A>C	ENST00000700313.1:p.Glu276Ala
	ENST00000700317.1:c.839A>C	ENST00000700317.1:p.Glu280Ala
	ENST00000700320.1:c.866A>C	ENST00000700320.1:p.Glu289Ala
	ENST00000700321.1:c.839A>C	ENST00000700321.1:p.Glu280Ala
	ENST00000700322.1:c.827A>C	ENST00000700322.1:p.Glu276Ala
	ENST00000700323.1:c.839A>C	ENST00000700323.1:p.Glu280Ala
	ENST00000700324.1:c.827A>C	ENST00000700324.1:p.Glu276Ala
	ENST00000700375.1:c.839A>C	ENST00000700375.1:p.Glu280Ala
	ENST00000700378.1:c.839A>C	ENST00000700378.1:p.Glu280Ala
	ENST00000700389.1:c.827A>C	ENST00000700389.1:p.Glu276Ala
	ENST00000700437.1:c.590A>C	ENST00000700437.1:p.Glu197Ala
	ENST00000700468.1:c.757+5236A>C
	ENST00000700469.1:c.827A>C	ENST00000700469.1:p.Glu276Ala

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	3
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University
Pathogenic		Early onset Alzheimer's disease	germline	MGS000075 (TMGS000147)	Takeshi Ikeuchi	Niigata University JFADdb

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2015-01-13	no assertion criteria provided	Alzheimer disease 3	germline unknown	Detail
Pathogenic	2022-04-22	criteria provided, single submitter	frontotemporal dementia,Alzheimer disease 3,Acne inversa, familial, 3,Pick disease	germline	Detail
Pathogenic	2022-04-22	criteria provided, single submitter	frontotemporal dementia,Alzheimer disease 3,Acne inversa, familial, 3,Pick disease	germline	Detail
Pathogenic	2022-04-22	criteria provided, single submitter	frontotemporal dementia,Alzheimer disease 3,Acne inversa, familial, 3,Pick disease	germline	Detail
Pathogenic	2022-04-22	criteria provided, single submitter	frontotemporal dementia,Alzheimer disease 3,Acne inversa, familial, 3,Pick disease	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.320	Alzheimer disease, familial, type 3	NA	CLINVAR		Detail
0.002	Neurofibrillary degeneration (morphologic abnormality)	Some of the PS1 mutations studied (M139V, I143F, G209V, R269H, E280A), but not o...	BeFree	10468510	Detail
0.003	Impaired cognition	Clinical deterioration can be detected as measurable cognitive impairment around...	BeFree	21296022	Detail
0.389	Alzheimer's disease	The findings support the notion that a deficit in the mechanism responsible for ...	BeFree	25352452	Detail
0.015	Familial Alzheimer Disease (FAD)	They have been found to be affected in patients who meet criteria for familial A...	BeFree	25762465	Detail
0.389	Alzheimer's disease	To obtain in vivo information about how PS1 mutations cause AD pathology at such...	BeFree	8837617	Detail
0.015	Familial Alzheimer Disease (FAD)	In this exploratory study, we sequenced the complete genomes of six individuals ...	BeFree	22829467	Detail
0.012	Presenile dementia	Pre-dementia clinical stages in presenilin 1 E280A familial early-onset Alzheime...	BeFree	21296022	Detail
0.046	dementia	Pre-dementia clinical stages in presenilin 1 E280A familial early-onset Alzheime...	BeFree	21296022	Detail
0.012	Presenile dementia	Participants with SAD met the criteria for dementia and were negative for the E2...	BeFree	10923058	Detail
0.009	Alzheimer Disease, Early Onset	We studied 75 subjects from the largest multigenerational pedigree in the world ...	BeFree	24239247	Detail
0.009	Alzheimer Disease, Early Onset	Clinical features of early-onset Alzheimer disease in a large kindred with an E2...	BeFree	9052708	Detail
0.005	Seizures	This study aimed to determine the neuronal loss in CA1 hippocampal region from p...	BeFree	15230697	Detail
0.009	Alzheimer Disease, Early Onset	Origin of the PSEN1 E280A mutation causing early-onset Alzheimer's disease.	BeFree	24239249	Detail
0.046	dementia	Participants with SAD met the criteria for dementia and were negative for the E2...	BeFree	10923058	Detail
<0.001	epilepsy	CA1 hippocampal neuronal loss in familial Alzheimer's disease presenilin-1 E280A...	BeFree	15230697	Detail
<0.001	Alzheimer's disease	To identify individuals at risk for Alzheimer disease (AD) we used high-density ...	BeFree	21775732	Detail
0.389	Alzheimer's disease	Associations between biomarkers and age in the presenilin 1 E280A autosomal domi...	BeFree	25580592	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala) AND Alzheimer disease 3	ClinVar	Detail
NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
Some of the PS1 mutations studied (M139V, I143F, G209V, R269H, E280A), but not others, were also ass...	DisGeNET	Detail
Clinical deterioration can be detected as measurable cognitive impairment around two decades before ...	DisGeNET	Detail
The findings support the notion that a deficit in the mechanism responsible for coordinating the per...	DisGeNET	Detail
They have been found to be affected in patients who meet criteria for familial Alzheimer's disease d...	DisGeNET	Detail
To obtain in vivo information about how PS1 mutations cause AD pathology at such early ages, we char...	DisGeNET	Detail
In this exploratory study, we sequenced the complete genomes of six individuals with familial Alzhei...	DisGeNET	Detail
Pre-dementia clinical stages in presenilin 1 E280A familial early-onset Alzheimer's disease: a retro...	DisGeNET	Detail
Pre-dementia clinical stages in presenilin 1 E280A familial early-onset Alzheimer's disease: a retro...	DisGeNET	Detail
Participants with SAD met the criteria for dementia and were negative for the E280A presenilin 1 mut...	DisGeNET	Detail
We studied 75 subjects from the largest multigenerational pedigree in the world (∼5000 people) that ...	DisGeNET	Detail
Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mut...	DisGeNET	Detail
This study aimed to determine the neuronal loss in CA1 hippocampal region from patients bearing the ...	DisGeNET	Detail
Origin of the PSEN1 E280A mutation causing early-onset Alzheimer's disease.	DisGeNET	Detail
Participants with SAD met the criteria for dementia and were negative for the E280A presenilin 1 mut...	DisGeNET	Detail
CA1 hippocampal neuronal loss in familial Alzheimer's disease presenilin-1 E280A mutation is related...	DisGeNET	Detail
To identify individuals at risk for Alzheimer disease (AD) we used high-density ERPs to examine brai...	DisGeNET	Detail
Associations between biomarkers and age in the presenilin 1 E280A autosomal dominant Alzheimer disea...	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: rs63750231 dbSNP
Genome: hg19
Position: chr14:73,664,808-73,664,808
Variant Type: snv
Reference Allele: A
Alternative Allele: C

Genome browser

chr14:73664808:A>C Detail (hg19) (PSEN1)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript