chr14:73640362:A>T 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	chr14:73,640,362-73,640,362
hg38	chr14:73,173,654-73,173,654 View the variant detail on this assembly version.

HGVS

PSEN1

Type	Transcript	Protein
RefSeq	NM_000021.3:c.427A>T	NP_000012.1:p.Ile143Phe
	NM_007318.2:c.427A>T	NP_015557.2:p.Ile143Phe
Ensemble	ENST00000700322.1:c.415A>T	ENST00000700322.1:p.Ile139Phe
	ENST00000700273.1:c.415A>T	ENST00000700273.1:p.Ile139Phe
	ENST00000700321.1:c.427A>T	ENST00000700321.1:p.Ile143Phe
	ENST00000700317.1:c.427A>T	ENST00000700317.1:p.Ile143Phe
	ENST00000324501.10:c.427A>T	ENST00000324501.10:p.Ile143Phe
	ENST00000700431.1:c.415A>T	ENST00000700431.1:p.Ile139Phe
	ENST00000700323.1:c.427A>T	ENST00000700323.1:p.Ile143Phe
	ENST00000557293.6:c.427A>T	ENST00000557293.6:p.Ile143Phe
	ENST00000700313.1:c.415A>T	ENST00000700313.1:p.Ile139Phe
	ENST00000700469.1:c.415A>T	ENST00000700469.1:p.Ile139Phe
	ENST00000700307.1:c.427A>T	ENST00000700307.1:p.Ile143Phe
	ENST00000700389.1:c.415A>T	ENST00000700389.1:p.Ile139Phe
	ENST00000700265.1:c.415A>T	ENST00000700265.1:p.Ile139Phe
	ENST00000700271.1:c.415A>T	ENST00000700271.1:p.Ile139Phe
	ENST00000394164.5:c.415A>T	ENST00000394164.5:p.Ile139Phe
	ENST00000700378.1:c.427A>T	ENST00000700378.1:p.Ile143Phe
	ENST00000700320.1:c.427A>T	ENST00000700320.1:p.Ile143Phe
	ENST00000700468.1:c.415A>T	ENST00000700468.1:p.Ile139Phe
	ENST00000554131.6:c.427A>T	ENST00000554131.6:p.Ile143Phe
	ENST00000700268.1:c.427A>T	ENST00000700268.1:p.Ile143Phe
	ENST00000700437.1:c.178A>T	ENST00000700437.1:p.Ile60Phe
	ENST00000557511.5:c.427A>T	ENST00000557511.5:p.Ile143Phe
	ENST00000700324.1:c.415A>T	ENST00000700324.1:p.Ile139Phe
	ENST00000357710.8:c.415A>T	ENST00000357710.8:p.Ile139Phe
	ENST00000394157.7:c.427A>T	ENST00000394157.7:p.Ile143Phe
	ENST00000700306.1:c.427A>T	ENST00000700306.1:p.Ile143Phe
	ENST00000700312.1:c.178A>T	ENST00000700312.1:p.Ile60Phe
	ENST00000553599.6:c.415A>T	ENST00000553599.6:p.Ile139Phe
	ENST00000556951.6:c.415A>T	ENST00000556951.6:p.Ile139Phe
	ENST00000700375.1:c.427A>T	ENST00000700375.1:p.Ile143Phe
	ENST00000700269.1:c.427A>T	ENST00000700269.1:p.Ile143Phe
	ENST00000700267.1:c.427A>T	ENST00000700267.1:p.Ile143Phe

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	not provided
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
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)	Some of the PS1 mutations studied (M139V, I143F, G209V, R269H, E280A), but not o...	BeFree	10468510	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000021.4(PSEN1):c.427A>T (p.Ile143Phe) AND not provided	ClinVar	Detail
Some of the PS1 mutations studied (M139V, I143F, G209V, R269H, E280A), but not others, were also ass...	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: rs63750322 dbSNP
Genome: hg19
Position: chr14:73,640,362-73,640,362
Variant Type: snv
Reference Allele: A
Alternative Allele: T

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