chr14:73170984:G>C Detail (hg38) (PSEN1)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr14:73,637,692-73,637,692 View the variant detail on this assembly version.
hg38	chr14:73,170,984-73,170,984

HGVS

PSEN1

Type	Transcript	Protein
RefSeq	NM_000021.3:c.275G>C	NP_000012.1:p.Cys92Ser
	NM_007318.2:c.275G>C	NP_015557.2:p.Cys92Ser
Ensemble	ENST00000324501.10:c.275G>C	ENST00000324501.10:p.Cys92Ser
	ENST00000357710.8:c.263G>C	ENST00000357710.8:p.Cys88Ser
	ENST00000394157.7:c.275G>C	ENST00000394157.7:p.Cys92Ser
	ENST00000394164.5:c.263G>C	ENST00000394164.5:p.Cys88Ser
	ENST00000553599.6:c.263G>C	ENST00000553599.6:p.Cys88Ser
	ENST00000554131.6:c.275G>C	ENST00000554131.6:p.Cys92Ser
	ENST00000556951.6:c.263G>C	ENST00000556951.6:p.Cys88Ser
	ENST00000557293.6:c.275G>C	ENST00000557293.6:p.Cys92Ser
	ENST00000557511.5:c.275G>C	ENST00000557511.5:p.Cys92Ser
	ENST00000700265.1:c.263G>C	ENST00000700265.1:p.Cys88Ser
	ENST00000700267.1:c.275G>C	ENST00000700267.1:p.Cys92Ser
	ENST00000700268.1:c.275G>C	ENST00000700268.1:p.Cys92Ser
	ENST00000700269.1:c.275G>C	ENST00000700269.1:p.Cys92Ser
	ENST00000700271.1:c.263G>C	ENST00000700271.1:p.Cys88Ser
	ENST00000700273.1:c.263G>C	ENST00000700273.1:p.Cys88Ser
	ENST00000700306.1:c.275G>C	ENST00000700306.1:p.Cys92Ser
	ENST00000700307.1:c.275G>C	ENST00000700307.1:p.Cys92Ser
	ENST00000700312.1:c.26G>C	ENST00000700312.1:p.Cys9Ser
	ENST00000700313.1:c.263G>C	ENST00000700313.1:p.Cys88Ser
	ENST00000700317.1:c.275G>C	ENST00000700317.1:p.Cys92Ser
	ENST00000700320.1:c.275G>C	ENST00000700320.1:p.Cys92Ser
	ENST00000700321.1:c.275G>C	ENST00000700321.1:p.Cys92Ser
	ENST00000700322.1:c.263G>C	ENST00000700322.1:p.Cys88Ser
	ENST00000700323.1:c.275G>C	ENST00000700323.1:p.Cys92Ser
	ENST00000700324.1:c.263G>C	ENST00000700324.1:p.Cys88Ser
	ENST00000700375.1:c.275G>C	ENST00000700375.1:p.Cys92Ser
	ENST00000700378.1:c.275G>C	ENST00000700378.1:p.Cys92Ser
	ENST00000700389.1:c.263G>C	ENST00000700389.1:p.Cys88Ser
	ENST00000700431.1:c.263G>C	ENST00000700431.1:p.Cys88Ser
	ENST00000700437.1:c.26G>C	ENST00000700437.1:p.Cys9Ser
	ENST00000700468.1:c.263G>C	ENST00000700468.1:p.Cys88Ser
	ENST00000700469.1:c.263G>C	ENST00000700469.1:p.Cys88Ser

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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	2000-10-14	no assertion criteria provided	Alzheimer disease 3	germline	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.275G>C (p.Cys92Ser) AND Alzheimer disease 3	ClinVar	Detail
NM_000021.4(PSEN1):c.275G>C (p.Cys92Ser) 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: rs63751141 dbSNP
Genome: hg38
Position: chr14:73,170,984-73,170,984
Variant Type: snv
Reference Allele: G
Alternative Allele: C

Genome browser