chr14:73640350:A>G 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	chr14:73,640,350-73,640,350
hg38	chr14:73,173,642-73,173,642 View the variant detail on this assembly version.

HGVS

PSEN1

Type	Transcript	Protein
RefSeq	NM_000021.3:c.415A>G	NP_000012.1:p.Met139Val
	NM_007318.2:c.415A>G	NP_015557.2:p.Met139Val
Ensemble	ENST00000700322.1:c.403A>G	ENST00000700322.1:p.Met135Val
	ENST00000700317.1:c.415A>G	ENST00000700317.1:p.Met139Val
	ENST00000324501.10:c.415A>G	ENST00000324501.10:p.Met139Val
	ENST00000700321.1:c.415A>G	ENST00000700321.1:p.Met139Val
	ENST00000700273.1:c.403A>G	ENST00000700273.1:p.Met135Val
	ENST00000700323.1:c.415A>G	ENST00000700323.1:p.Met139Val
	ENST00000700313.1:c.403A>G	ENST00000700313.1:p.Met135Val
	ENST00000557293.6:c.415A>G	ENST00000557293.6:p.Met139Val
	ENST00000700431.1:c.403A>G	ENST00000700431.1:p.Met135Val
	ENST00000394164.5:c.403A>G	ENST00000394164.5:p.Met135Val
	ENST00000700378.1:c.415A>G	ENST00000700378.1:p.Met139Val
	ENST00000700271.1:c.403A>G	ENST00000700271.1:p.Met135Val
	ENST00000700265.1:c.403A>G	ENST00000700265.1:p.Met135Val
	ENST00000700320.1:c.415A>G	ENST00000700320.1:p.Met139Val
	ENST00000700307.1:c.415A>G	ENST00000700307.1:p.Met139Val
	ENST00000700469.1:c.403A>G	ENST00000700469.1:p.Met135Val
	ENST00000700389.1:c.403A>G	ENST00000700389.1:p.Met135Val
	ENST00000700324.1:c.403A>G	ENST00000700324.1:p.Met135Val
	ENST00000357710.8:c.403A>G	ENST00000357710.8:p.Met135Val
	ENST00000700468.1:c.403A>G	ENST00000700468.1:p.Met135Val
	ENST00000554131.6:c.415A>G	ENST00000554131.6:p.Met139Val
	ENST00000700268.1:c.415A>G	ENST00000700268.1:p.Met139Val
	ENST00000700437.1:c.166A>G	ENST00000700437.1:p.Met56Val
	ENST00000557511.5:c.415A>G	ENST00000557511.5:p.Met139Val
	ENST00000700306.1:c.415A>G	ENST00000700306.1:p.Met139Val
	ENST00000394157.7:c.415A>G	ENST00000394157.7:p.Met139Val
	ENST00000553599.6:c.403A>G	ENST00000553599.6:p.Met135Val
	ENST00000700375.1:c.415A>G	ENST00000700375.1:p.Met139Val
	ENST00000556951.6:c.403A>G	ENST00000556951.6:p.Met135Val
	ENST00000700312.1:c.166A>G	ENST00000700312.1:p.Met56Val
	ENST00000700269.1:c.415A>G	ENST00000700269.1:p.Met139Val
	ENST00000700267.1:c.415A>G	ENST00000700267.1:p.Met139Val

Summary

MGeND

Clinical significance
Variant entry
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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-07-29	criteria provided, single submitter	Alzheimer disease 3	unknown germline	Detail
Pathogenic	2021-04-01	criteria provided, multiple submitters, no conflicts	not provided	germline not provided	Detail
Pathogenic	2023-12-04	criteria provided, single submitter	frontotemporal dementia,Acne inversa, familial, 3,Pick disease,Alzheimer disease 3	germline	Detail
Pathogenic	2023-12-04	criteria provided, single submitter	frontotemporal dementia,Acne inversa, familial, 3,Pick disease,Alzheimer disease 3	germline	Detail
Pathogenic	2023-12-04	criteria provided, single submitter	frontotemporal dementia,Acne inversa, familial, 3,Pick disease,Alzheimer disease 3	germline	Detail
Pathogenic	2023-12-04	criteria provided, single submitter	frontotemporal dementia,Acne inversa, familial, 3,Pick disease,Alzheimer disease 3	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.320	Alzheimer disease, familial, type 3	NA	CLINVAR		Detail
0.002	Neurofibrillary degeneration (morphologic abnormality)	Some of the PS1 mutations studied (M139V, I143F, G209V, R269H, E280A), but not o...	BeFree	10468510	Detail
0.046	dementia	Herein we report the case of a German EOAD patient with a family history of deme...	BeFree	9728730	Detail
0.012	Presenile dementia	Herein we report the case of a German EOAD patient with a family history of deme...	BeFree	9728730	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000021.4(PSEN1):c.415A>G (p.Met139Val) AND Alzheimer disease 3	ClinVar	Detail
NM_000021.4(PSEN1):c.415A>G (p.Met139Val) AND not provided	ClinVar	Detail
NM_000021.4(PSEN1):c.415A>G (p.Met139Val) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.415A>G (p.Met139Val) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.415A>G (p.Met139Val) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.415A>G (p.Met139Val) 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
Herein we report the case of a German EOAD patient with a family history of dementia and a missense ...	DisGeNET	Detail
Herein we report the case of a German EOAD patient with a family history of dementia and a missense ...	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: rs63751037 dbSNP
Genome: hg19
Position: chr14:73,640,350-73,640,350
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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