chr14:73683933:G>A 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	chr14:73,683,933-73,683,933
hg38	chr14:73,217,225-73,217,225 View the variant detail on this assembly version.

HGVS

PSEN1

Type	Transcript	Protein
RefSeq	NM_000021.3:c.1229G>A	NP_000012.1:p.Cys410Tyr
	NM_007318.2:c.1229G>A	NP_015557.2:p.Cys410Tyr
Ensemble	ENST00000357710.8:c.1217G>A	ENST00000357710.8:p.Cys406Tyr
	ENST00000700324.1:c.1217G>A	ENST00000700324.1:p.Cys406Tyr
	ENST00000557511.5:c.1055G>A	ENST00000557511.5:p.Cys352Tyr
	ENST00000700468.1:c.1118G>A	ENST00000700468.1:p.Cys373Tyr
	ENST00000700268.1:c.1229G>A	ENST00000700268.1:p.Cys410Tyr
	ENST00000700437.1:c.980G>A	ENST00000700437.1:p.Cys327Tyr
	ENST00000554131.6:c.1229G>A	ENST00000554131.6:p.Cys410Tyr
	ENST00000700306.1:c.1229G>A	ENST00000700306.1:p.Cys410Tyr
	ENST00000700375.1:c.1229G>A	ENST00000700375.1:p.Cys410Tyr
	ENST00000556951.6:c.1217G>A	ENST00000556951.6:p.Cys406Tyr
	ENST00000553599.6:c.1217G>A	ENST00000553599.6:p.Cys406Tyr
	ENST00000700312.1:c.980G>A	ENST00000700312.1:p.Cys327Tyr
	ENST00000700267.1:c.1229G>A	ENST00000700267.1:p.Cys410Tyr
	ENST00000700269.1:c.1229G>A	ENST00000700269.1:p.Cys410Tyr
	ENST00000700322.1:c.1217G>A	ENST00000700322.1:p.Cys406Tyr
	ENST00000324501.10:c.1229G>A	ENST00000324501.10:p.Cys410Tyr
	ENST00000700317.1:c.1229G>A	ENST00000700317.1:p.Cys410Tyr
	ENST00000700273.1:c.1217G>A	ENST00000700273.1:p.Cys406Tyr
	ENST00000700321.1:c.1229G>A	ENST00000700321.1:p.Cys410Tyr
	ENST00000700313.1:c.1217G>A	ENST00000700313.1:p.Cys406Tyr
	ENST00000557293.6:c.1109G>A	ENST00000557293.6:p.Cys370Tyr
	ENST00000700323.1:c.1229G>A	ENST00000700323.1:p.Cys410Tyr
	ENST00000700320.1:c.1256G>A	ENST00000700320.1:p.Cys419Tyr
	ENST00000700265.1:c.1217G>A	ENST00000700265.1:p.Cys406Tyr
	ENST00000700378.1:c.1229G>A	ENST00000700378.1:p.Cys410Tyr
	ENST00000394164.5:c.1217G>A	ENST00000394164.5:p.Cys406Tyr
	ENST00000700271.1:c.1043G>A	ENST00000700271.1:p.Cys348Tyr
	ENST00000700389.1:c.1217G>A	ENST00000700389.1:p.Cys406Tyr
	ENST00000700307.1:c.1130G>A	ENST00000700307.1:p.Cys377Tyr
	ENST00000700469.1:c.1217G>A	ENST00000700469.1:p.Cys406Tyr

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	1995-06-29	no assertion criteria provided	Alzheimer disease 3	germline	Detail
not provided		no assertion provided	not provided	not provided	Detail
Pathogenic	2017-10-22	criteria provided, single submitter	Alzheimer disease 3,Acne inversa, familial, 3,frontotemporal dementia,Pick disease	germline	Detail
Pathogenic	2017-10-22	criteria provided, single submitter	Alzheimer disease 3,Acne inversa, familial, 3,frontotemporal dementia,Pick disease	germline	Detail
Pathogenic	2017-10-22	criteria provided, single submitter	Alzheimer disease 3,Acne inversa, familial, 3,frontotemporal dementia,Pick disease	germline	Detail
Pathogenic	2017-10-22	criteria provided, single submitter	Alzheimer disease 3,Acne inversa, familial, 3,frontotemporal dementia,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
0.389	Alzheimer's disease	Presenilin-1 C410Y Alzheimer disease plaques contain synaptic proteins.	BeFree	17545141	Detail
0.320	Alzheimer disease, familial, type 3	Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogene...	UNIPROT	10441572	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) AND Alzheimer disease 3	ClinVar	Detail
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) AND not provided	ClinVar	Detail
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
Presenilin-1 C410Y Alzheimer disease plaques contain synaptic proteins.	DisGeNET	Detail
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation sp...	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: rs661 dbSNP
Genome: hg19
Position: chr14:73,683,933-73,683,933
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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