chr14:73640373:G>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	chr14:73,640,373-73,640,373
hg38	chr14:73,173,665-73,173,665 View the variant detail on this assembly version.

HGVS

PSEN1

Type	Transcript	Protein
RefSeq	NM_000021.3:c.438G>T	NP_000012.1:p.Met146Ile
	NM_007318.2:c.438G>T	NP_015557.2:p.Met146Ile
Ensemble	ENST00000700273.1:c.426G>T	ENST00000700273.1:p.Met142Ile
	ENST00000700321.1:c.438G>T	ENST00000700321.1:p.Met146Ile
	ENST00000700317.1:c.438G>T	ENST00000700317.1:p.Met146Ile
	ENST00000324501.10:c.438G>T	ENST00000324501.10:p.Met146Ile
	ENST00000700322.1:c.426G>T	ENST00000700322.1:p.Met142Ile
	ENST00000700469.1:c.426G>T	ENST00000700469.1:p.Met142Ile
	ENST00000700307.1:c.438G>T	ENST00000700307.1:p.Met146Ile
	ENST00000700389.1:c.426G>T	ENST00000700389.1:p.Met142Ile
	ENST00000700265.1:c.426G>T	ENST00000700265.1:p.Met142Ile
	ENST00000700271.1:c.426G>T	ENST00000700271.1:p.Met142Ile
	ENST00000394164.5:c.426G>T	ENST00000394164.5:p.Met142Ile
	ENST00000700378.1:c.438G>T	ENST00000700378.1:p.Met146Ile
	ENST00000700320.1:c.438G>T	ENST00000700320.1:p.Met146Ile
	ENST00000700431.1:c.426G>T	ENST00000700431.1:p.Met142Ile
	ENST00000700323.1:c.438G>T	ENST00000700323.1:p.Met146Ile
	ENST00000557293.6:c.438G>T	ENST00000557293.6:p.Met146Ile
	ENST00000700313.1:c.426G>T	ENST00000700313.1:p.Met142Ile
	ENST00000394157.7:c.438G>T	ENST00000394157.7:p.Met146Ile
	ENST00000700306.1:c.438G>T	ENST00000700306.1:p.Met146Ile
	ENST00000700468.1:c.426G>T	ENST00000700468.1:p.Met142Ile
	ENST00000554131.6:c.438G>T	ENST00000554131.6:p.Met146Ile
	ENST00000700268.1:c.438G>T	ENST00000700268.1:p.Met146Ile
	ENST00000700437.1:c.189G>T	ENST00000700437.1:p.Met63Ile
	ENST00000557511.5:c.438G>T	ENST00000557511.5:p.Met146Ile
	ENST00000700324.1:c.426G>T	ENST00000700324.1:p.Met142Ile
	ENST00000357710.8:c.426G>T	ENST00000357710.8:p.Met142Ile
	ENST00000700269.1:c.438G>T	ENST00000700269.1:p.Met146Ile
	ENST00000700267.1:c.438G>T	ENST00000700267.1:p.Met146Ile
	ENST00000700312.1:c.189G>T	ENST00000700312.1:p.Met63Ile
	ENST00000553599.6:c.426G>T	ENST00000553599.6:p.Met142Ile
	ENST00000556951.6:c.426G>T	ENST00000556951.6:p.Met142Ile
	ENST00000700375.1:c.438G>T	ENST00000700375.1:p.Met146Ile

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	2016-11-30	criteria provided, single submitter	not provided	germline not provided	Detail
Pathogenic	2024-01-24	criteria provided, single submitter	frontotemporal dementia,Alzheimer disease 3,Pick disease,Acne inversa, familial, 3	germline	Detail
Pathogenic	2024-01-24	criteria provided, single submitter	frontotemporal dementia,Alzheimer disease 3,Pick disease,Acne inversa, familial, 3	germline	Detail
Pathogenic	2024-01-24	criteria provided, single submitter	frontotemporal dementia,Alzheimer disease 3,Pick disease,Acne inversa, familial, 3	germline	Detail
Pathogenic	2024-01-24	criteria provided, single submitter	frontotemporal dementia,Alzheimer disease 3,Pick disease,Acne inversa, familial, 3	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.320	Alzheimer disease, familial, type 3	NA	CLINVAR		Detail
<0.001	Adult neuronal ceroid lipofuscinosis	The pathogenic M146I mutation in PSEN1, and instrumental findings common to adul...	BeFree	21212640	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000021.4(PSEN1):c.438G>T (p.Met146Ile) AND not provided	ClinVar	Detail
NM_000021.4(PSEN1):c.438G>T (p.Met146Ile) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.438G>T (p.Met146Ile) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.438G>T (p.Met146Ile) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.438G>T (p.Met146Ile) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
The pathogenic M146I mutation in PSEN1, and instrumental findings common to adult neuronal ceroid li...	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: rs63750391 dbSNP
Genome: hg19
Position: chr14:73,640,373-73,640,373
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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