chr14:73664802:G>C Detail (hg19) (PSEN1)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr14:73,664,802-73,664,802
hg38	chr14:73,198,094-73,198,094 View the variant detail on this assembly version.

HGVS

PSEN1

Type	Transcript	Protein
RefSeq	NM_000021.3:c.833G>C	NP_000012.1:p.Arg278Thr
	NM_007318.2:c.833G>C	NP_015557.2:p.Arg278Thr
Ensemble	ENST00000357710.8:c.821G>C	ENST00000357710.8:p.Arg274Thr
	ENST00000700324.1:c.821G>C	ENST00000700324.1:p.Arg274Thr
	ENST00000557511.5:c.833G>C	ENST00000557511.5:p.Arg278Thr
	ENST00000700268.1:c.833G>C	ENST00000700268.1:p.Arg278Thr
	ENST00000700437.1:c.584G>C	ENST00000700437.1:p.Arg195Thr
	ENST00000554131.6:c.833G>C	ENST00000554131.6:p.Arg278Thr
	ENST00000700468.1:c.757+5230G>C
	ENST00000700306.1:c.833G>C	ENST00000700306.1:p.Arg278Thr
	ENST00000700375.1:c.833G>C	ENST00000700375.1:p.Arg278Thr
	ENST00000556951.6:c.821G>C	ENST00000556951.6:p.Arg274Thr
	ENST00000553599.6:c.821G>C	ENST00000553599.6:p.Arg274Thr
	ENST00000700312.1:c.584G>C	ENST00000700312.1:p.Arg195Thr
	ENST00000700267.1:c.833G>C	ENST00000700267.1:p.Arg278Thr
	ENST00000700269.1:c.833G>C	ENST00000700269.1:p.Arg278Thr
	ENST00000700322.1:c.821G>C	ENST00000700322.1:p.Arg274Thr
	ENST00000324501.10:c.833G>C	ENST00000324501.10:p.Arg278Thr
	ENST00000700317.1:c.833G>C	ENST00000700317.1:p.Arg278Thr
	ENST00000700273.1:c.821G>C	ENST00000700273.1:p.Arg274Thr
	ENST00000700321.1:c.833G>C	ENST00000700321.1:p.Arg278Thr
	ENST00000700313.1:c.821G>C	ENST00000700313.1:p.Arg274Thr
	ENST00000557293.6:c.713G>C	ENST00000557293.6:p.Arg238Thr
	ENST00000700323.1:c.833G>C	ENST00000700323.1:p.Arg278Thr
	ENST00000700320.1:c.860G>C	ENST00000700320.1:p.Arg287Thr
	ENST00000700265.1:c.821G>C	ENST00000700265.1:p.Arg274Thr
	ENST00000700378.1:c.833G>C	ENST00000700378.1:p.Arg278Thr
	ENST00000394164.5:c.821G>C	ENST00000394164.5:p.Arg274Thr
	ENST00000700271.1:c.821G>C	ENST00000700271.1:p.Arg274Thr
	ENST00000700389.1:c.821G>C	ENST00000700389.1:p.Arg274Thr
	ENST00000700307.1:c.769+5230G>C
	ENST00000700469.1:c.821G>C	ENST00000700469.1:p.Arg274Thr

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	1997-04-14	no assertion criteria provided	Alzheimer disease, familial, with spastic paraparesis and unusual plaques	germline	Detail
Pathogenic	2021-07-10	criteria provided, single submitter		de novo	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.320	Alzheimer disease, familial, type 3	NA	CLINVAR		Detail
<0.001	Language Disorders	A presenilin 1 R278I mutation presenting with language impairment.	BeFree	15534260	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000021.4(PSEN1):c.833G>C (p.Arg278Thr) AND Alzheimer disease, familial, with spastic paraparesis ...	ClinVar	Detail
NM_000021.4(PSEN1):c.833G>C (p.Arg278Thr) AND Abnormality of the nervous system	ClinVar	Detail
NA	DisGeNET	Detail
A presenilin 1 R278I mutation presenting with language impairment.	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: rs63749891 dbSNP
Genome: hg19
Position: chr14:73,664,802-73,664,802
Variant Type: snv
Reference Allele: G
Alternative Allele: C

Genome browser