chr14:73640371:A>T 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	chr14:73,640,371-73,640,371
hg38	chr14:73,173,663-73,173,663 View the variant detail on this assembly version.

HGVS

PSEN1

Type	Transcript	Protein
RefSeq	NM_000021.3:c.436A>T	NP_000012.1:p.Met146Leu
	NM_007318.2:c.436A>T	NP_015557.2:p.Met146Leu
Ensemble	ENST00000394157.7:c.436A>T	ENST00000394157.7:p.Met146Leu
	ENST00000700306.1:c.436A>T	ENST00000700306.1:p.Met146Leu
	ENST00000557511.5:c.436A>T	ENST00000557511.5:p.Met146Leu
	ENST00000554131.6:c.436A>T	ENST00000554131.6:p.Met146Leu
	ENST00000700268.1:c.436A>T	ENST00000700268.1:p.Met146Leu
	ENST00000700437.1:c.187A>T	ENST00000700437.1:p.Met63Leu
	ENST00000700468.1:c.424A>T	ENST00000700468.1:p.Met142Leu
	ENST00000700324.1:c.424A>T	ENST00000700324.1:p.Met142Leu
	ENST00000357710.8:c.424A>T	ENST00000357710.8:p.Met142Leu
	ENST00000700267.1:c.436A>T	ENST00000700267.1:p.Met146Leu
	ENST00000700269.1:c.436A>T	ENST00000700269.1:p.Met146Leu
	ENST00000700312.1:c.187A>T	ENST00000700312.1:p.Met63Leu
	ENST00000700375.1:c.436A>T	ENST00000700375.1:p.Met146Leu
	ENST00000556951.6:c.424A>T	ENST00000556951.6:p.Met142Leu
	ENST00000553599.6:c.424A>T	ENST00000553599.6:p.Met142Leu
	ENST00000700273.1:c.424A>T	ENST00000700273.1:p.Met142Leu
	ENST00000700321.1:c.436A>T	ENST00000700321.1:p.Met146Leu
	ENST00000324501.10:c.436A>T	ENST00000324501.10:p.Met146Leu
	ENST00000700317.1:c.436A>T	ENST00000700317.1:p.Met146Leu
	ENST00000700322.1:c.424A>T	ENST00000700322.1:p.Met142Leu
	ENST00000700389.1:c.424A>T	ENST00000700389.1:p.Met142Leu
	ENST00000700307.1:c.436A>T	ENST00000700307.1:p.Met146Leu
	ENST00000700469.1:c.424A>T	ENST00000700469.1:p.Met142Leu
	ENST00000700320.1:c.436A>T	ENST00000700320.1:p.Met146Leu
	ENST00000700265.1:c.424A>T	ENST00000700265.1:p.Met142Leu
	ENST00000394164.5:c.424A>T	ENST00000394164.5:p.Met142Leu
	ENST00000700378.1:c.436A>T	ENST00000700378.1:p.Met146Leu
	ENST00000700271.1:c.424A>T	ENST00000700271.1:p.Met142Leu
	ENST00000700431.1:c.424A>T	ENST00000700431.1:p.Met142Leu
	ENST00000700313.1:c.424A>T	ENST00000700313.1:p.Met142Leu
	ENST00000557293.6:c.436A>T	ENST00000557293.6:p.Met146Leu
	ENST00000700323.1:c.436A>T	ENST00000700323.1:p.Met146Leu

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
not provided		no assertion provided	not provided	not provided	Detail
Pathogenic	2022-05-04	criteria provided, single submitter	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
0.248	Pick Disease of the Brain	The PS-1 M146V mutation was found in the 50-year-old subject (the proband) with ...	BeFree	23489366	Detail
0.002	Neurofibrillary degeneration (morphologic abnormality)	Increased tau phosphorylation but absence of formation of neurofibrillary tangle...	BeFree	11786218	Detail
0.030	Senile Plaques	Tau pathology was not seen in any transgenic genotype, although a massive glial ...	BeFree	11476589	Detail
0.006	Plaque, Amyloid	PSAPP mice expressing the Swedish amyloid precursor protein and M146L presenilin...	BeFree	16914834	Detail
0.008	Senile Plaques	Tau pathology was not seen in any transgenic genotype, although a massive glial ...	BeFree	11476589	Detail
0.005	Familial Alzheimer Disease (FAD)	To investigate the factors that drive the Abeta42/Abeta40 ratio and amyloid path...	BeFree	16574645	Detail
0.001	Familial Dementia	Familial dementia with frontotemporal features associated with M146V presenilin-...	BeFree	23489366	Detail
0.006	Plaque, Amyloid	The age of onset of Abeta deposition was reduced by crossing in a third rat line...	BeFree	18053619	Detail
0.369	frontotemporal dementia	The PS-1 M146V mutation was found in the 50-year-old subject (the proband) with ...	BeFree	23489366	Detail
0.008	Senile Plaques	PSAPP mice expressing the Swedish amyloid precursor protein and M146L presenilin...	BeFree	16914834	Detail
0.141	Plaque, Amyloid	Tau pathology was not seen in any transgenic genotype, although a massive glial ...	BeFree	11476589	Detail
0.006	Plaque, Amyloid	Tau pathology was not seen in any transgenic genotype, although a massive glial ...	BeFree	11476589	Detail
0.004	neuroblastoma	Here, we report that the expression of FAD-linked PS1 M146V mutant affects store...	BeFree	23624206	Detail
0.004	Central neuroblastoma	Here, we report that the expression of FAD-linked PS1 M146V mutant affects store...	BeFree	23624206	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000021.4(PSEN1):c.436A>T (p.Met146Leu) AND not provided	ClinVar	Detail
NM_000021.4(PSEN1):c.436A>T (p.Met146Leu) AND Pick disease	ClinVar	Detail
NA	DisGeNET	Detail
The PS-1 M146V mutation was found in the 50-year-old subject (the proband) with family history of ea...	DisGeNET	Detail
Increased tau phosphorylation but absence of formation of neurofibrillary tangles in mice double tra...	DisGeNET	Detail
Tau pathology was not seen in any transgenic genotype, although a massive glial response occurred in...	DisGeNET	Detail
PSAPP mice expressing the Swedish amyloid precursor protein and M146L presenilin-1 mutations are a w...	DisGeNET	Detail
Tau pathology was not seen in any transgenic genotype, although a massive glial response occurred in...	DisGeNET	Detail
To investigate the factors that drive the Abeta42/Abeta40 ratio and amyloid pathogenesis and to inve...	DisGeNET	Detail
Familial dementia with frontotemporal features associated with M146V presenilin-1 mutation.	DisGeNET	Detail
The age of onset of Abeta deposition was reduced by crossing in a third rat line carrying a human pr...	DisGeNET	Detail
The PS-1 M146V mutation was found in the 50-year-old subject (the proband) with family history of ea...	DisGeNET	Detail
PSAPP mice expressing the Swedish amyloid precursor protein and M146L presenilin-1 mutations are a w...	DisGeNET	Detail
Tau pathology was not seen in any transgenic genotype, although a massive glial response occurred in...	DisGeNET	Detail
Tau pathology was not seen in any transgenic genotype, although a massive glial response occurred in...	DisGeNET	Detail
Here, we report that the expression of FAD-linked PS1 M146V mutant affects store-operated calcium ch...	DisGeNET	Detail
Here, we report that the expression of FAD-linked PS1 M146V mutant affects store-operated calcium ch...	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: rs63750306 dbSNP
Genome: hg19
Position: chr14:73,640,371-73,640,371
Variant Type: snv
Reference Allele: A
Alternative Allele: T

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