chr14:73186869:T>C 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	chr14:73,653,577-73,653,577 View the variant detail on this assembly version.
hg38	chr14:73,186,869-73,186,869

HGVS

PSEN1

Type	Transcript	Protein
RefSeq	NM_000021.3:c.497T>C	NP_000012.1:p.Leu166Pro
	NM_007318.2:c.497T>C	NP_015557.2:p.Leu166Pro
Ensemble	ENST00000324501.10:c.497T>C	ENST00000324501.10:p.Leu166Pro
	ENST00000357710.8:c.485T>C	ENST00000357710.8:p.Leu162Pro
	ENST00000394164.5:c.485T>C	ENST00000394164.5:p.Leu162Pro
	ENST00000553599.6:c.485T>C	ENST00000553599.6:p.Leu162Pro
	ENST00000554131.6:c.497T>C	ENST00000554131.6:p.Leu166Pro
	ENST00000556951.6:c.485T>C	ENST00000556951.6:p.Leu162Pro
	ENST00000557293.6:c.497T>C	ENST00000557293.6:p.Leu166Pro
	ENST00000557511.5:c.497T>C	ENST00000557511.5:p.Leu166Pro
	ENST00000700265.1:c.485T>C	ENST00000700265.1:p.Leu162Pro
	ENST00000700267.1:c.497T>C	ENST00000700267.1:p.Leu166Pro
	ENST00000700268.1:c.497T>C	ENST00000700268.1:p.Leu166Pro
	ENST00000700269.1:c.497T>C	ENST00000700269.1:p.Leu166Pro
	ENST00000700271.1:c.485T>C	ENST00000700271.1:p.Leu162Pro
	ENST00000700273.1:c.485T>C	ENST00000700273.1:p.Leu162Pro
	ENST00000700306.1:c.497T>C	ENST00000700306.1:p.Leu166Pro
	ENST00000700307.1:c.497T>C	ENST00000700307.1:p.Leu166Pro
	ENST00000700312.1:c.248T>C	ENST00000700312.1:p.Leu83Pro
	ENST00000700313.1:c.485T>C	ENST00000700313.1:p.Leu162Pro
	ENST00000700317.1:c.497T>C	ENST00000700317.1:p.Leu166Pro
	ENST00000700320.1:c.497T>C	ENST00000700320.1:p.Leu166Pro
	ENST00000700321.1:c.497T>C	ENST00000700321.1:p.Leu166Pro
	ENST00000700322.1:c.485T>C	ENST00000700322.1:p.Leu162Pro
	ENST00000700323.1:c.497T>C	ENST00000700323.1:p.Leu166Pro
	ENST00000700324.1:c.485T>C	ENST00000700324.1:p.Leu162Pro
	ENST00000700375.1:c.497T>C	ENST00000700375.1:p.Leu166Pro
	ENST00000700378.1:c.497T>C	ENST00000700378.1:p.Leu166Pro
	ENST00000700389.1:c.485T>C	ENST00000700389.1:p.Leu162Pro
	ENST00000700437.1:c.248T>C	ENST00000700437.1:p.Leu83Pro
	ENST00000700468.1:c.485T>C	ENST00000700468.1:p.Leu162Pro
	ENST00000700469.1:c.485T>C	ENST00000700469.1:p.Leu162Pro

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	2019-05-28	criteria provided, single submitter	Alzheimer disease 3	germline unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.320	Alzheimer disease, familial, type 3	NA	CLINVAR		Detail
0.009	Alzheimer Disease, Early Onset	A novel presenilin 1 mutation (Leu166Arg) associated with early-onset Alzheimer ...	BeFree	10768621	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000021.4(PSEN1):c.497T>C (p.Leu166Pro) AND Alzheimer disease 3	ClinVar	Detail
NA	DisGeNET	Detail
A novel presenilin 1 mutation (Leu166Arg) associated with early-onset Alzheimer disease.	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: rs63750265 dbSNP
Genome: hg38
Position: chr14:73,186,869-73,186,869
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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