chr14:73683845:C>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	chr14:73,683,845-73,683,845
hg38	chr14:73,217,137-73,217,137 View the variant detail on this assembly version.

HGVS

PSEN1

Type	Transcript	Protein
RefSeq	NM_000021.3:c.1141C>T	NP_000012.1:p.Leu381Phe
	NM_007318.2:c.1141C>T	NP_015557.2:p.Leu381Phe
Ensemble	ENST00000700306.1:c.1141C>T	ENST00000700306.1:p.Leu381Phe
	ENST00000700324.1:c.1129C>T	ENST00000700324.1:p.Leu377Phe
	ENST00000357710.8:c.1129C>T	ENST00000357710.8:p.Leu377Phe
	ENST00000554131.6:c.1141C>T	ENST00000554131.6:p.Leu381Phe
	ENST00000700268.1:c.1141C>T	ENST00000700268.1:p.Leu381Phe
	ENST00000700437.1:c.892C>T	ENST00000700437.1:p.Leu298Phe
	ENST00000700468.1:c.1030C>T	ENST00000700468.1:p.Leu344Phe
	ENST00000557511.5:c.967C>T	ENST00000557511.5:p.Leu323Phe
	ENST00000700269.1:c.1141C>T	ENST00000700269.1:p.Leu381Phe
	ENST00000700267.1:c.1141C>T	ENST00000700267.1:p.Leu381Phe
	ENST00000553599.6:c.1129C>T	ENST00000553599.6:p.Leu377Phe
	ENST00000700375.1:c.1141C>T	ENST00000700375.1:p.Leu381Phe
	ENST00000556951.6:c.1129C>T	ENST00000556951.6:p.Leu377Phe
	ENST00000700312.1:c.892C>T	ENST00000700312.1:p.Leu298Phe
	ENST00000700317.1:c.1141C>T	ENST00000700317.1:p.Leu381Phe
	ENST00000324501.10:c.1141C>T	ENST00000324501.10:p.Leu381Phe
	ENST00000700321.1:c.1141C>T	ENST00000700321.1:p.Leu381Phe
	ENST00000700273.1:c.1129C>T	ENST00000700273.1:p.Leu377Phe
	ENST00000700322.1:c.1129C>T	ENST00000700322.1:p.Leu377Phe
	ENST00000394164.5:c.1129C>T	ENST00000394164.5:p.Leu377Phe
	ENST00000700378.1:c.1141C>T	ENST00000700378.1:p.Leu381Phe
	ENST00000700271.1:c.955C>T	ENST00000700271.1:p.Leu319Phe
	ENST00000700265.1:c.1129C>T	ENST00000700265.1:p.Leu377Phe
	ENST00000700320.1:c.1168C>T	ENST00000700320.1:p.Leu390Phe
	ENST00000700307.1:c.1042C>T	ENST00000700307.1:p.Leu348Phe
	ENST00000700469.1:c.1129C>T	ENST00000700469.1:p.Leu377Phe
	ENST00000700389.1:c.1129C>T	ENST00000700389.1:p.Leu377Phe
	ENST00000700323.1:c.1141C>T	ENST00000700323.1:p.Leu381Phe
	ENST00000700313.1:c.1129C>T	ENST00000700313.1:p.Leu377Phe
	ENST00000557293.6:c.1021C>T	ENST00000557293.6:p.Leu341Phe

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely 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	2014-01-01	no assertion criteria provided	Alzheimer disease familial 3, with spastic paraparesis	germline	Detail
Likely pathogenic	2017-11-17	criteria provided, single submitter	Alzheimer disease 3	unknown	Detail
Likely pathogenic	2023-11-04	criteria provided, single submitter	frontotemporal dementia,Alzheimer disease 3,Acne inversa, familial, 3,Pick disease	germline	Detail
Likely pathogenic	2023-11-04	criteria provided, single submitter	frontotemporal dementia,Alzheimer disease 3,Acne inversa, familial, 3,Pick disease	germline	Detail
Likely pathogenic	2023-11-04	criteria provided, single submitter	frontotemporal dementia,Alzheimer disease 3,Acne inversa, familial, 3,Pick disease	germline	Detail
Likely pathogenic	2023-11-04	criteria provided, single submitter	frontotemporal dementia,Alzheimer disease 3,Acne inversa, familial, 3,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

Annotation

Annotations

Descrption	Source	Links
NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe) AND Alzheimer disease familial 3, with spastic paraparesi...	ClinVar	Detail
NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe) AND Alzheimer disease 3	ClinVar	Detail
NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe) AND multiple conditions	ClinVar	Detail
NA	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: rs63750687 dbSNP
Genome: hg19
Position: chr14:73,683,845-73,683,845
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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