chr14:73640352:G>A 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	chr14:73,640,352-73,640,352
hg38	chr14:73,173,644-73,173,644 View the variant detail on this assembly version.

HGVS

PSEN1

Type	Transcript	Protein
RefSeq	NM_000021.3:c.417G>A	NP_000012.1:p.Met139Ile
	NM_007318.2:c.417G>A	NP_015557.2:p.Met139Ile
Ensemble	ENST00000700317.1:c.417G>A	ENST00000700317.1:p.Met139Ile
	ENST00000324501.10:c.417G>A	ENST00000324501.10:p.Met139Ile
	ENST00000700273.1:c.405G>A	ENST00000700273.1:p.Met135Ile
	ENST00000700321.1:c.417G>A	ENST00000700321.1:p.Met139Ile
	ENST00000700322.1:c.405G>A	ENST00000700322.1:p.Met135Ile
	ENST00000700265.1:c.405G>A	ENST00000700265.1:p.Met135Ile
	ENST00000700271.1:c.405G>A	ENST00000700271.1:p.Met135Ile
	ENST00000394164.5:c.405G>A	ENST00000394164.5:p.Met135Ile
	ENST00000700378.1:c.417G>A	ENST00000700378.1:p.Met139Ile
	ENST00000700320.1:c.417G>A	ENST00000700320.1:p.Met139Ile
	ENST00000700469.1:c.405G>A	ENST00000700469.1:p.Met135Ile
	ENST00000700307.1:c.417G>A	ENST00000700307.1:p.Met139Ile
	ENST00000700389.1:c.405G>A	ENST00000700389.1:p.Met135Ile
	ENST00000700323.1:c.417G>A	ENST00000700323.1:p.Met139Ile
	ENST00000557293.6:c.417G>A	ENST00000557293.6:p.Met139Ile
	ENST00000700313.1:c.405G>A	ENST00000700313.1:p.Met135Ile
	ENST00000700431.1:c.405G>A	ENST00000700431.1:p.Met135Ile
	ENST00000700306.1:c.417G>A	ENST00000700306.1:p.Met139Ile
	ENST00000394157.7:c.417G>A	ENST00000394157.7:p.Met139Ile
	ENST00000700324.1:c.405G>A	ENST00000700324.1:p.Met135Ile
	ENST00000357710.8:c.405G>A	ENST00000357710.8:p.Met135Ile
	ENST00000700468.1:c.405G>A	ENST00000700468.1:p.Met135Ile
	ENST00000554131.6:c.417G>A	ENST00000554131.6:p.Met139Ile
	ENST00000700268.1:c.417G>A	ENST00000700268.1:p.Met139Ile
	ENST00000700437.1:c.168G>A	ENST00000700437.1:p.Met56Ile
	ENST00000557511.5:c.417G>A	ENST00000557511.5:p.Met139Ile
	ENST00000700269.1:c.417G>A	ENST00000700269.1:p.Met139Ile
	ENST00000700267.1:c.417G>A	ENST00000700267.1:p.Met139Ile
	ENST00000553599.6:c.405G>A	ENST00000553599.6:p.Met135Ile
	ENST00000556951.6:c.405G>A	ENST00000556951.6:p.Met135Ile
	ENST00000700375.1:c.417G>A	ENST00000700375.1:p.Met139Ile
	ENST00000700312.1:c.168G>A	ENST00000700312.1:p.Met56Ile

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	not provided
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

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.002	Neurofibrillary degeneration (morphologic abnormality)	Immunocytochemical examination of brains from individuals with the N141I PS2 mut...	BeFree	11126202	Detail
0.008	Senile Plaques	Immunocytochemical examination of brains from individuals with the N141I PS2 mut...	BeFree	11126202	Detail
0.001	Neurofibrillary degeneration (morphologic abnormality)	Immunocytochemical examination of brains from individuals with the N141I PS2 mut...	BeFree	11126202	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000021.4(PSEN1):c.417G>A (p.Met139Ile) AND not provided	ClinVar	Detail
Immunocytochemical examination of brains from individuals with the N141I PS2 mutation or eight diffe...	DisGeNET	Detail
Immunocytochemical examination of brains from individuals with the N141I PS2 mutation or eight diffe...	DisGeNET	Detail
Immunocytochemical examination of brains from individuals with the N141I PS2 mutation or eight diffe...	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: rs63750522 dbSNP
Genome: hg19
Position: chr14:73,640,352-73,640,352
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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