chr14:73217225:G>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	chr14:73,683,933-73,683,933 View the variant detail on this assembly version.
hg38	chr14:73,217,225-73,217,225

HGVS

PSEN1

Type	Transcript	Protein
RefSeq	NM_000021.3:c.1229G>T	NP_000012.1:p.Cys410Phe
	NM_007318.2:c.1229G>T	NP_015557.2:p.Cys410Phe
Ensemble	ENST00000324501.10:c.1229G>T	ENST00000324501.10:p.Cys410Phe
	ENST00000357710.8:c.1217G>T	ENST00000357710.8:p.Cys406Phe
	ENST00000394164.5:c.1217G>T	ENST00000394164.5:p.Cys406Phe
	ENST00000553599.6:c.1217G>T	ENST00000553599.6:p.Cys406Phe
	ENST00000554131.6:c.1229G>T	ENST00000554131.6:p.Cys410Phe
	ENST00000556951.6:c.1217G>T	ENST00000556951.6:p.Cys406Phe
	ENST00000557293.6:c.1109G>T	ENST00000557293.6:p.Cys370Phe
	ENST00000557511.5:c.1055G>T	ENST00000557511.5:p.Cys352Phe
	ENST00000700265.1:c.1217G>T	ENST00000700265.1:p.Cys406Phe
	ENST00000700267.1:c.1229G>T	ENST00000700267.1:p.Cys410Phe
	ENST00000700268.1:c.1229G>T	ENST00000700268.1:p.Cys410Phe
	ENST00000700269.1:c.1229G>T	ENST00000700269.1:p.Cys410Phe
	ENST00000700271.1:c.1043G>T	ENST00000700271.1:p.Cys348Phe
	ENST00000700273.1:c.1217G>T	ENST00000700273.1:p.Cys406Phe
	ENST00000700306.1:c.1229G>T	ENST00000700306.1:p.Cys410Phe
	ENST00000700307.1:c.1130G>T	ENST00000700307.1:p.Cys377Phe
	ENST00000700312.1:c.980G>T	ENST00000700312.1:p.Cys327Phe
	ENST00000700313.1:c.1217G>T	ENST00000700313.1:p.Cys406Phe
	ENST00000700317.1:c.1229G>T	ENST00000700317.1:p.Cys410Phe
	ENST00000700320.1:c.1256G>T	ENST00000700320.1:p.Cys419Phe
	ENST00000700321.1:c.1229G>T	ENST00000700321.1:p.Cys410Phe
	ENST00000700322.1:c.1217G>T	ENST00000700322.1:p.Cys406Phe
	ENST00000700323.1:c.1229G>T	ENST00000700323.1:p.Cys410Phe
	ENST00000700324.1:c.1217G>T	ENST00000700324.1:p.Cys406Phe
	ENST00000700375.1:c.1229G>T	ENST00000700375.1:p.Cys410Phe
	ENST00000700378.1:c.1229G>T	ENST00000700378.1:p.Cys410Phe
	ENST00000700389.1:c.1217G>T	ENST00000700389.1:p.Cys406Phe
	ENST00000700437.1:c.980G>T	ENST00000700437.1:p.Cys327Phe
	ENST00000700468.1:c.1118G>T	ENST00000700468.1:p.Cys373Phe
	ENST00000700469.1:c.1217G>T	ENST00000700469.1:p.Cys406Phe

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
Review star	[No Data.]
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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.320	Alzheimer disease, familial, type 3	NA	CLINVAR		Detail
0.389	Alzheimer's disease	Presenilin-1 C410Y Alzheimer disease plaques contain synaptic proteins.	BeFree	17545141	Detail
0.320	Alzheimer disease, familial, type 3	Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogene...	UNIPROT	10441572	Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	Detail
Presenilin-1 C410Y Alzheimer disease plaques contain synaptic proteins.	DisGeNET	Detail
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation sp...	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: -
Genome: hg38
Position: chr14:73,217,225-73,217,225
Variant Type: snv
Reference Allele: G
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): 121390
Allele Counts in All Race (ExAC): 6
Heterozygous Counts in All Race (ExAC): 6
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.9427465194826595E-5

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