chr14:73173574:C>T 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	chr14:73,640,282-73,640,282 View the variant detail on this assembly version.
hg38	chr14:73,173,574-73,173,574

HGVS

PSEN1

Type	Transcript	Protein
RefSeq	NM_000021.3:c.347C>T	NP_000012.1:p.Thr116Ile
	NM_007318.2:c.347C>T	NP_015557.2:p.Thr116Ile
Ensemble	ENST00000324501.10:c.347C>T	ENST00000324501.10:p.Thr116Ile
	ENST00000357710.8:c.335C>T	ENST00000357710.8:p.Thr112Ile
	ENST00000394157.7:c.347C>T	ENST00000394157.7:p.Thr116Ile
	ENST00000394164.5:c.335C>T	ENST00000394164.5:p.Thr112Ile
	ENST00000553599.6:c.335C>T	ENST00000553599.6:p.Thr112Ile
	ENST00000554131.6:c.347C>T	ENST00000554131.6:p.Thr116Ile
	ENST00000556951.6:c.335C>T	ENST00000556951.6:p.Thr112Ile
	ENST00000557293.6:c.347C>T	ENST00000557293.6:p.Thr116Ile
	ENST00000557511.5:c.347C>T	ENST00000557511.5:p.Thr116Ile
	ENST00000700265.1:c.335C>T	ENST00000700265.1:p.Thr112Ile
	ENST00000700267.1:c.347C>T	ENST00000700267.1:p.Thr116Ile
	ENST00000700268.1:c.347C>T	ENST00000700268.1:p.Thr116Ile
	ENST00000700269.1:c.347C>T	ENST00000700269.1:p.Thr116Ile
	ENST00000700271.1:c.335C>T	ENST00000700271.1:p.Thr112Ile
	ENST00000700273.1:c.335C>T	ENST00000700273.1:p.Thr112Ile
	ENST00000700306.1:c.347C>T	ENST00000700306.1:p.Thr116Ile
	ENST00000700307.1:c.347C>T	ENST00000700307.1:p.Thr116Ile
	ENST00000700312.1:c.98C>T	ENST00000700312.1:p.Thr33Ile
	ENST00000700313.1:c.335C>T	ENST00000700313.1:p.Thr112Ile
	ENST00000700317.1:c.347C>T	ENST00000700317.1:p.Thr116Ile
	ENST00000700320.1:c.347C>T	ENST00000700320.1:p.Thr116Ile
	ENST00000700321.1:c.347C>T	ENST00000700321.1:p.Thr116Ile
	ENST00000700322.1:c.335C>T	ENST00000700322.1:p.Thr112Ile
	ENST00000700323.1:c.347C>T	ENST00000700323.1:p.Thr116Ile
	ENST00000700324.1:c.335C>T	ENST00000700324.1:p.Thr112Ile
	ENST00000700375.1:c.347C>T	ENST00000700375.1:p.Thr116Ile
	ENST00000700378.1:c.347C>T	ENST00000700378.1:p.Thr116Ile
	ENST00000700389.1:c.335C>T	ENST00000700389.1:p.Thr112Ile
	ENST00000700431.1:c.335C>T	ENST00000700431.1:p.Thr112Ile
	ENST00000700437.1:c.98C>T	ENST00000700437.1:p.Thr33Ile
	ENST00000700468.1:c.335C>T	ENST00000700468.1:p.Thr112Ile
	ENST00000700469.1:c.335C>T	ENST00000700469.1:p.Thr112Ile

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
not provided		no assertion provided	not provided	not provided	Detail
Pathogenic	2022-04-11	criteria provided, single submitter	Alzheimer disease 3,frontotemporal dementia,Pick disease,Acne inversa, familial, 3	germline	Detail
Pathogenic	2022-04-11	criteria provided, single submitter	Alzheimer disease 3,frontotemporal dementia,Pick disease,Acne inversa, familial, 3	germline	Detail
Pathogenic	2022-04-11	criteria provided, single submitter	Alzheimer disease 3,frontotemporal dementia,Pick disease,Acne inversa, familial, 3	germline	Detail
Pathogenic	2022-04-11	criteria provided, single submitter	Alzheimer disease 3,frontotemporal dementia,Pick disease,Acne inversa, familial, 3	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.389	Alzheimer's disease	Several causative mutations were identified and confirmed by Sanger sequencing, ...	BeFree	25174650	Detail
0.089	Alzheimer's disease	Several causative mutations were identified and confirmed by Sanger sequencing, ...	BeFree	25174650	Detail
0.003	amyotrophic lateral sclerosis	Several causative mutations were identified and confirmed by Sanger sequencing, ...	BeFree	25174650	Detail
0.438	amyotrophic lateral sclerosis	Several causative mutations were identified and confirmed by Sanger sequencing, ...	BeFree	25174650	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000021.4(PSEN1):c.347C>T (p.Thr116Ile) AND not provided	ClinVar	Detail
NM_000021.4(PSEN1):c.347C>T (p.Thr116Ile) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.347C>T (p.Thr116Ile) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.347C>T (p.Thr116Ile) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.347C>T (p.Thr116Ile) AND multiple conditions	ClinVar	Detail
Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M2...	DisGeNET	Detail
Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M2...	DisGeNET	Detail
Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M2...	DisGeNET	Detail
Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M2...	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: rs63750730 dbSNP
Genome: hg38
Position: chr14:73,173,574-73,173,574
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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