chr14:73637755:T>C 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	chr14:73,637,755-73,637,755
hg38	chr14:73,171,047-73,171,047 View the variant detail on this assembly version.

HGVS

PSEN1

Type	Transcript	Protein
RefSeq	NM_000021.3:c.338T>C	NP_000012.1:p.Leu113Pro
	NM_007318.2:c.338T>C	NP_015557.2:p.Leu113Pro
Ensemble	ENST00000394157.7:c.338T>C	ENST00000394157.7:p.Leu113Pro
	ENST00000700306.1:c.338T>C	ENST00000700306.1:p.Leu113Pro
	ENST00000557511.5:c.338T>C	ENST00000557511.5:p.Leu113Pro
	ENST00000700468.1:c.326T>C	ENST00000700468.1:p.Leu109Pro
	ENST00000700268.1:c.338T>C	ENST00000700268.1:p.Leu113Pro
	ENST00000700437.1:c.89T>C	ENST00000700437.1:p.Leu30Pro
	ENST00000554131.6:c.338T>C	ENST00000554131.6:p.Leu113Pro
	ENST00000357710.8:c.326T>C	ENST00000357710.8:p.Leu109Pro
	ENST00000700324.1:c.326T>C	ENST00000700324.1:p.Leu109Pro
	ENST00000700267.1:c.338T>C	ENST00000700267.1:p.Leu113Pro
	ENST00000700269.1:c.338T>C	ENST00000700269.1:p.Leu113Pro
	ENST00000700312.1:c.89T>C	ENST00000700312.1:p.Leu30Pro
	ENST00000700375.1:c.338T>C	ENST00000700375.1:p.Leu113Pro
	ENST00000556951.6:c.326T>C	ENST00000556951.6:p.Leu109Pro
	ENST00000553599.6:c.326T>C	ENST00000553599.6:p.Leu109Pro
	ENST00000700321.1:c.338T>C	ENST00000700321.1:p.Leu113Pro
	ENST00000700273.1:c.326T>C	ENST00000700273.1:p.Leu109Pro
	ENST00000324501.10:c.338T>C	ENST00000324501.10:p.Leu113Pro
	ENST00000700317.1:c.338T>C	ENST00000700317.1:p.Leu113Pro
	ENST00000700322.1:c.326T>C	ENST00000700322.1:p.Leu109Pro
	ENST00000700389.1:c.326T>C	ENST00000700389.1:p.Leu109Pro
	ENST00000700307.1:c.338T>C	ENST00000700307.1:p.Leu113Pro
	ENST00000700469.1:c.326T>C	ENST00000700469.1:p.Leu109Pro
	ENST00000700320.1:c.338T>C	ENST00000700320.1:p.Leu113Pro
	ENST00000700378.1:c.338T>C	ENST00000700378.1:p.Leu113Pro
	ENST00000394164.5:c.326T>C	ENST00000394164.5:p.Leu109Pro
	ENST00000700271.1:c.326T>C	ENST00000700271.1:p.Leu109Pro
	ENST00000700265.1:c.326T>C	ENST00000700265.1:p.Leu109Pro
	ENST00000700431.1:c.326T>C	ENST00000700431.1:p.Leu109Pro
	ENST00000700313.1:c.326T>C	ENST00000700313.1:p.Leu109Pro
	ENST00000557293.6:c.338T>C	ENST00000557293.6:p.Leu113Pro
	ENST00000700323.1:c.338T>C	ENST00000700323.1:p.Leu113Pro

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	2000-11-28	no assertion criteria provided	frontotemporal dementia	germline	Detail
not provided		no assertion provided	Alzheimer disease 3	unknown	Detail
Likely pathogenic	2019-04-04	criteria provided, single submitter	not provided	germline not provided	Detail
Likely pathogenic	2019-10-16	criteria provided, single submitter	frontotemporal dementia,Acne inversa, familial, 3,Alzheimer disease 3,Pick disease	germline	Detail
Likely pathogenic	2019-10-16	criteria provided, single submitter	frontotemporal dementia,Acne inversa, familial, 3,Alzheimer disease 3,Pick disease	germline	Detail
Likely pathogenic	2019-10-16	criteria provided, single submitter	frontotemporal dementia,Acne inversa, familial, 3,Alzheimer disease 3,Pick disease	germline	Detail
Likely pathogenic	2019-10-16	criteria provided, single submitter	frontotemporal dementia,Acne inversa, familial, 3,Alzheimer disease 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
0.369	frontotemporal dementia	NA	CLINVAR		Detail
0.046	dementia	Dementia with prominent frontotemporal features associated with L113P presenilin...	BeFree	11094121	Detail
0.012	Presenile dementia	Dementia with prominent frontotemporal features associated with L113P presenilin...	BeFree	11094121	Detail
0.248	Pick Disease of the Brain	Interestingly, two presenilin 1 (PS1) mutations (Leu113Pro and insArg352) recent...	BeFree	15122701	Detail
0.369	frontotemporal dementia	Interestingly, two presenilin 1 (PS1) mutations (Leu113Pro and insArg352) recent...	BeFree	15122701	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) AND Frontotemporal dementia	ClinVar	Detail
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) AND Alzheimer disease 3	ClinVar	Detail
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) AND not provided	ClinVar	Detail
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation.	DisGeNET	Detail
Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation.	DisGeNET	Detail
Interestingly, two presenilin 1 (PS1) mutations (Leu113Pro and insArg352) recently have been associa...	DisGeNET	Detail
Interestingly, two presenilin 1 (PS1) mutations (Leu113Pro and insArg352) recently have been associa...	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: rs63751399 dbSNP
Genome: hg19
Position: chr14:73,637,755-73,637,755
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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