chr14:73170974: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	chr14:73,637,682-73,637,682 View the variant detail on this assembly version.
hg38	chr14:73,170,974-73,170,974

HGVS

PSEN1

Type	Transcript	Protein
RefSeq	NM_000021.3:c.265G>T	NP_000012.1:p.Val89Leu
	NM_007318.2:c.265G>T	NP_015557.2:p.Val89Leu
Ensemble	ENST00000324501.10:c.265G>T	ENST00000324501.10:p.Val89Leu
	ENST00000357710.8:c.253G>T	ENST00000357710.8:p.Val85Leu
	ENST00000394157.7:c.265G>T	ENST00000394157.7:p.Val89Leu
	ENST00000394164.5:c.253G>T	ENST00000394164.5:p.Val85Leu
	ENST00000553599.6:c.253G>T	ENST00000553599.6:p.Val85Leu
	ENST00000554131.6:c.265G>T	ENST00000554131.6:p.Val89Leu
	ENST00000556951.6:c.253G>T	ENST00000556951.6:p.Val85Leu
	ENST00000557293.6:c.265G>T	ENST00000557293.6:p.Val89Leu
	ENST00000557511.5:c.265G>T	ENST00000557511.5:p.Val89Leu
	ENST00000700265.1:c.253G>T	ENST00000700265.1:p.Val85Leu
	ENST00000700267.1:c.265G>T	ENST00000700267.1:p.Val89Leu
	ENST00000700268.1:c.265G>T	ENST00000700268.1:p.Val89Leu
	ENST00000700269.1:c.265G>T	ENST00000700269.1:p.Val89Leu
	ENST00000700271.1:c.253G>T	ENST00000700271.1:p.Val85Leu
	ENST00000700273.1:c.253G>T	ENST00000700273.1:p.Val85Leu
	ENST00000700306.1:c.265G>T	ENST00000700306.1:p.Val89Leu
	ENST00000700307.1:c.265G>T	ENST00000700307.1:p.Val89Leu
	ENST00000700312.1:c.16G>T	ENST00000700312.1:p.Val6Leu
	ENST00000700313.1:c.253G>T	ENST00000700313.1:p.Val85Leu
	ENST00000700317.1:c.265G>T	ENST00000700317.1:p.Val89Leu
	ENST00000700320.1:c.265G>T	ENST00000700320.1:p.Val89Leu
	ENST00000700321.1:c.265G>T	ENST00000700321.1:p.Val89Leu
	ENST00000700322.1:c.253G>T	ENST00000700322.1:p.Val85Leu
	ENST00000700323.1:c.265G>T	ENST00000700323.1:p.Val89Leu
	ENST00000700324.1:c.253G>T	ENST00000700324.1:p.Val85Leu
	ENST00000700375.1:c.265G>T	ENST00000700375.1:p.Val89Leu
	ENST00000700378.1:c.265G>T	ENST00000700378.1:p.Val89Leu
	ENST00000700389.1:c.253G>T	ENST00000700389.1:p.Val85Leu
	ENST00000700431.1:c.253G>T	ENST00000700431.1:p.Val85Leu
	ENST00000700437.1:c.16G>T	ENST00000700437.1:p.Val6Leu
	ENST00000700468.1:c.253G>T	ENST00000700468.1:p.Val85Leu
	ENST00000700469.1:c.253G>T	ENST00000700469.1:p.Val85Leu

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	Alzheimer disease 3	unknown	Detail
not provided		no assertion provided	not provided	not provided	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.320	Alzheimer disease, familial, type 3	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000021.4(PSEN1):c.265G>T (p.Val89Leu) AND Alzheimer disease 3	ClinVar	Detail
NM_000021.4(PSEN1):c.265G>T (p.Val89Leu) AND not provided	ClinVar	Detail
NA	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: rs63750815 dbSNP
Genome: hg38
Position: chr14:73,170,974-73,170,974
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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