chr14:73170945:C>T Detail (hg38) (PSEN1)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr14:73,637,653-73,637,653 View the variant detail on this assembly version.
hg38	chr14:73,170,945-73,170,945

HGVS

PSEN1

Type	Transcript	Protein
RefSeq	NM_000021.3:c.236C>T	NP_000012.1:p.Ala79Val
	NM_007318.2:c.236C>T	NP_015557.2:p.Ala79Val
Ensemble	ENST00000324501.10:c.236C>T	ENST00000324501.10:p.Ala79Val
	ENST00000357710.8:c.224C>T	ENST00000357710.8:p.Ala75Val
	ENST00000394157.7:c.236C>T	ENST00000394157.7:p.Ala79Val
	ENST00000394164.5:c.224C>T	ENST00000394164.5:p.Ala75Val
	ENST00000553599.6:c.224C>T	ENST00000553599.6:p.Ala75Val
	ENST00000554131.6:c.236C>T	ENST00000554131.6:p.Ala79Val
	ENST00000556951.6:c.224C>T	ENST00000556951.6:p.Ala75Val
	ENST00000557293.6:c.236C>T	ENST00000557293.6:p.Ala79Val
	ENST00000557511.5:c.236C>T	ENST00000557511.5:p.Ala79Val
	ENST00000700265.1:c.224C>T	ENST00000700265.1:p.Ala75Val
	ENST00000700267.1:c.236C>T	ENST00000700267.1:p.Ala79Val
	ENST00000700268.1:c.236C>T	ENST00000700268.1:p.Ala79Val
	ENST00000700269.1:c.236C>T	ENST00000700269.1:p.Ala79Val
	ENST00000700271.1:c.224C>T	ENST00000700271.1:p.Ala75Val
	ENST00000700273.1:c.224C>T	ENST00000700273.1:p.Ala75Val
	ENST00000700306.1:c.236C>T	ENST00000700306.1:p.Ala79Val
	ENST00000700307.1:c.236C>T	ENST00000700307.1:p.Ala79Val
	ENST00000700312.1:c.-14C>T
	ENST00000700313.1:c.224C>T	ENST00000700313.1:p.Ala75Val
	ENST00000700317.1:c.236C>T	ENST00000700317.1:p.Ala79Val
	ENST00000700320.1:c.236C>T	ENST00000700320.1:p.Ala79Val
	ENST00000700321.1:c.236C>T	ENST00000700321.1:p.Ala79Val
	ENST00000700322.1:c.224C>T	ENST00000700322.1:p.Ala75Val
	ENST00000700323.1:c.236C>T	ENST00000700323.1:p.Ala79Val
	ENST00000700324.1:c.224C>T	ENST00000700324.1:p.Ala75Val
	ENST00000700375.1:c.236C>T	ENST00000700375.1:p.Ala79Val
	ENST00000700378.1:c.236C>T	ENST00000700378.1:p.Ala79Val
	ENST00000700389.1:c.224C>T	ENST00000700389.1:p.Ala75Val
	ENST00000700431.1:c.224C>T	ENST00000700431.1:p.Ala75Val
	ENST00000700437.1:c.-14C>T
	ENST00000700468.1:c.224C>T	ENST00000700468.1:p.Ala75Val
	ENST00000700469.1:c.224C>T	ENST00000700469.1:p.Ala75Val

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	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	2007-05-01	no assertion criteria provided	Alzheimer disease 3	germline unknown	Detail
Pathogenic	2023-06-07	criteria provided, single submitter	not provided	not provided unknown	Detail
Pathogenic	2023-11-24	criteria provided, single submitter	frontotemporal dementia,Alzheimer disease 3,Acne inversa, familial, 3,Pick disease	germline	Detail
Pathogenic	2023-11-24	criteria provided, single submitter	frontotemporal dementia,Alzheimer disease 3,Acne inversa, familial, 3,Pick disease	germline	Detail
Pathogenic	2023-11-24	criteria provided, single submitter	frontotemporal dementia,Alzheimer disease 3,Acne inversa, familial, 3,Pick disease	germline	Detail
Pathogenic	2023-11-24	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
0.046	dementia	The A79V mutation in PS1 can be associated with very late onset of dementia.	BeFree	17615170	Detail
0.012	Presenile dementia	The A79V mutation in PS1 can be associated with very late onset of dementia.	BeFree	17615170	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) AND Alzheimer disease 3	ClinVar	Detail
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) AND not provided	ClinVar	Detail
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
The A79V mutation in PS1 can be associated with very late onset of dementia.	DisGeNET	Detail
The A79V mutation in PS1 can be associated with very late onset of dementia.	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: rs63749824 dbSNP
Genome: hg38
Position: chr14:73,170,945-73,170,945
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121348
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.240762105679534E-6

Genome browser