chr14:73219177:C>A Detail (hg38) (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	chr14:73,685,885-73,685,885 View the variant detail on this assembly version.
hg38	chr14:73,219,177-73,219,177

HGVS

PSEN1

Type	Transcript	Protein
RefSeq	NM_000021.3:c.1292C>A	NP_000012.1:p.Ala431Glu
	NM_007318.2:c.1292C>A	NP_015557.2:p.Ala431Glu
Ensemble	ENST00000324501.10:c.1292C>A	ENST00000324501.10:p.Ala431Glu
	ENST00000357710.8:c.1280C>A	ENST00000357710.8:p.Ala427Glu
	ENST00000394164.5:c.1280C>A	ENST00000394164.5:p.Ala427Glu
	ENST00000553599.6:c.1280C>A	ENST00000553599.6:p.Ala427Glu
	ENST00000554131.6:c.1292C>A	ENST00000554131.6:p.Ala431Glu
	ENST00000556951.6:c.1280C>A	ENST00000556951.6:p.Ala427Glu
	ENST00000557293.6:c.1172C>A	ENST00000557293.6:p.Ala391Glu
	ENST00000557511.5:c.1118C>A	ENST00000557511.5:p.Ala373Glu
	ENST00000700265.1:c.1280C>A	ENST00000700265.1:p.Ala427Glu
	ENST00000700267.1:c.1292C>A	ENST00000700267.1:p.Ala431Glu
	ENST00000700268.1:c.1292C>A	ENST00000700268.1:p.Ala431Glu
	ENST00000700269.1:c.1292C>A	ENST00000700269.1:p.Ala431Glu
	ENST00000700271.1:c.1106C>A	ENST00000700271.1:p.Ala369Glu
	ENST00000700273.1:c.1280C>A	ENST00000700273.1:p.Ala427Glu
	ENST00000700306.1:c.1292C>A	ENST00000700306.1:p.Ala431Glu
	ENST00000700307.1:c.1193C>A	ENST00000700307.1:p.Ala398Glu
	ENST00000700312.1:c.1043C>A	ENST00000700312.1:p.Ala348Glu
	ENST00000700313.1:c.1280C>A	ENST00000700313.1:p.Ala427Glu
	ENST00000700317.1:c.1292C>A	ENST00000700317.1:p.Ala431Glu
	ENST00000700320.1:c.1319C>A	ENST00000700320.1:p.Ala440Glu
	ENST00000700321.1:c.1292C>A	ENST00000700321.1:p.Ala431Glu
	ENST00000700322.1:c.1280C>A	ENST00000700322.1:p.Ala427Glu
	ENST00000700323.1:c.1292C>A	ENST00000700323.1:p.Ala431Glu
	ENST00000700324.1:c.1280C>A	ENST00000700324.1:p.Ala427Glu
	ENST00000700375.1:c.1292C>A	ENST00000700375.1:p.Ala431Glu
	ENST00000700378.1:c.1292C>A	ENST00000700378.1:p.Ala431Glu
	ENST00000700389.1:c.1280C>A	ENST00000700389.1:p.Ala427Glu
	ENST00000700437.1:c.1043C>A	ENST00000700437.1:p.Ala348Glu
	ENST00000700468.1:c.1181C>A	ENST00000700468.1:p.Ala394Glu
	ENST00000700469.1:c.1280C>A	ENST00000700469.1:p.Ala427Glu

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	2022-03-08	criteria provided, single submitter	Alzheimer disease 3	germline unknown	Detail
Pathogenic	2023-12-19	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2024-01-05	criteria provided, single submitter	frontotemporal dementia,Alzheimer disease 3,Acne inversa, familial, 3,Pick disease	germline	Detail
Pathogenic	2024-01-05	criteria provided, single submitter	frontotemporal dementia,Alzheimer disease 3,Acne inversa, familial, 3,Pick disease	germline	Detail
Pathogenic	2024-01-05	criteria provided, single submitter	frontotemporal dementia,Alzheimer disease 3,Acne inversa, familial, 3,Pick disease	germline	Detail
Pathogenic	2024-01-05	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
<0.001	clinical depression	Finally, we demonstrate that the two PS-1 variants reported to be associated wit...	BeFree	21373759	Detail
<0.001	Mild cognitive disorder	Clinical and biomarker investigation of a patient with a novel presenilin-1 muta...	BeFree	12399144	Detail
<0.001	clinical depression	Finally, we demonstrate that the two PS-1 variants reported to be associated wit...	BeFree	21373759	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) AND Alzheimer disease 3	ClinVar	Detail
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) AND not provided	ClinVar	Detail
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
Finally, we demonstrate that the two PS-1 variants reported to be associated with an increased incid...	DisGeNET	Detail
Clinical and biomarker investigation of a patient with a novel presenilin-1 mutation (A431V) in the ...	DisGeNET	Detail
Finally, we demonstrate that the two PS-1 variants reported to be associated with an increased incid...	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: rs63750083 dbSNP
Genome: hg38
Position: chr14:73,219,177-73,219,177
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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