chr1:227073304:A>T Detail (hg19) (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	chr1:227,073,304-227,073,304
hg38	chr1:226,885,603-226,885,603 View the variant detail on this assembly version.

HGVS

PSEN2

Type	Transcript	Protein
RefSeq	NM_012486.2:c.422A>T	NP_036618.2:p.Asn141Ile
	NM_000447.2:c.422A>T	NP_000438.2:p.Asn141Ile
Ensemble	ENST00000677414.1:c.422A>T	ENST00000677414.1:p.Asn141Ile
	ENST00000677880.1:c.-11A>T
	ENST00000366782.6:c.422A>T	ENST00000366782.6:p.Asn141Ile
	ENST00000626989.3:c.422A>T	ENST00000626989.3:p.Asn141Ile
	ENST00000678320.1:c.422A>T	ENST00000678320.1:p.Asn141Ile
	ENST00000422240.6:c.422A>T	ENST00000422240.6:p.Asn141Ile
	ENST00000472139.2:c.-11A>T
	ENST00000679088.1:c.422A>T	ENST00000679088.1:p.Asn141Ile
	ENST00000366783.8:c.422A>T	ENST00000366783.8:p.Asn141Ile
	ENST00000677599.1:c.422A>T	ENST00000677599.1:p.Asn141Ile
	ENST00000676945.1:c.422A>T	ENST00000676945.1:p.Asn141Ile

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	2024-02-29	criteria provided, multiple submitters, no conflicts	Alzheimer disease 4	germline unknown	Detail
Pathogenic	2022-03-31	criteria provided, multiple submitters, no conflicts	not provided	not provided germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	Alzheimer disease 4	NA	CLINVAR		Detail
0.005	Familial Alzheimer Disease (FAD)	The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga Ge...	BeFree	9050898	Detail
0.461	frontotemporal dementia	Moreover, we observed similarly reduced taxol/GTP-stimulated tubulin polymerizat...	BeFree	16155344	Detail
0.003	Alzheimer Disease, Early Onset	The Asn141Ile mutation of the presenilin 2 gene is responsible for familial earl...	BeFree	10404731	Detail
0.003	Alzheimer Disease, Early Onset	The families from Fulda, Germany, and the American Volga German families with EO...	BeFree	20457965	Detail
0.002	Neurofibrillary degeneration (morphologic abnormality)	Immunocytochemical examination of brains from individuals with the N141I PS2 mut...	BeFree	11126202	Detail
0.008	Senile Plaques	Immunocytochemical examination of brains from individuals with the N141I PS2 mut...	BeFree	11126202	Detail
<0.001	Amyloid angiopathy	Amyloid angiopathy in a Volga German family with Alzheimer's disease and a prese...	BeFree	9450781	Detail
0.004	Presenile dementia	To our knowledge, this is the first German EOAD patient without a Volga-German a...	BeFree	19073399	Detail
0.009	dementia	To our knowledge, this is the first German EOAD patient without a Volga-German a...	BeFree	19073399	Detail
0.004	frontotemporal dementia	Moreover, we observed similarly reduced taxol/GTP-stimulated tubulin polymerizat...	BeFree	16155344	Detail
0.313	Alzheimer's disease	The N141I mutation in PSEN2: implications for the quintessential case of Alzheim...	BeFree	20457965	Detail
0.001	Neurofibrillary degeneration (morphologic abnormality)	Immunocytochemical examination of brains from individuals with the N141I PS2 mut...	BeFree	11126202	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile) AND Alzheimer disease 4	ClinVar	Detail
NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) incre...	DisGeNET	Detail
Moreover, we observed similarly reduced taxol/GTP-stimulated tubulin polymerization from gray matter...	DisGeNET	Detail
The Asn141Ile mutation of the presenilin 2 gene is responsible for familial early-onset Alzheimer di...	DisGeNET	Detail
The families from Fulda, Germany, and the American Volga German families with EOAD share the same N1...	DisGeNET	Detail
Immunocytochemical examination of brains from individuals with the N141I PS2 mutation or eight diffe...	DisGeNET	Detail
Immunocytochemical examination of brains from individuals with the N141I PS2 mutation or eight diffe...	DisGeNET	Detail
Amyloid angiopathy in a Volga German family with Alzheimer's disease and a presenilin-2 mutation (N1...	DisGeNET	Detail
To our knowledge, this is the first German EOAD patient without a Volga-German ancestry and a positi...	DisGeNET	Detail
To our knowledge, this is the first German EOAD patient without a Volga-German ancestry and a positi...	DisGeNET	Detail
Moreover, we observed similarly reduced taxol/GTP-stimulated tubulin polymerization from gray matter...	DisGeNET	Detail
The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease.	DisGeNET	Detail
Immunocytochemical examination of brains from individuals with the N141I PS2 mutation or eight diffe...	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: rs63750215 dbSNP
Genome: hg19
Position: chr1:227,073,304-227,073,304
Variant Type: snv
Reference Allele: A
Alternative Allele: T

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