chr14:73192793:T>C Detail (hg38) (PSEN1)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr14:73,659,501-73,659,501 View the variant detail on this assembly version.
hg38	chr14:73,192,793-73,192,793

HGVS

PSEN1

Type	Transcript	Protein
RefSeq	NM_000021.3:c.698T>C	NP_000012.1:p.Met233Thr
	NM_007318.2:c.698T>C	NP_015557.2:p.Met233Thr
Ensemble	ENST00000324501.10:c.698T>C	ENST00000324501.10:p.Met233Thr
	ENST00000357710.8:c.686T>C	ENST00000357710.8:p.Met229Thr
	ENST00000394164.5:c.686T>C	ENST00000394164.5:p.Met229Thr
	ENST00000553599.6:c.686T>C	ENST00000553599.6:p.Met229Thr
	ENST00000554131.6:c.698T>C	ENST00000554131.6:p.Met233Thr
	ENST00000556951.6:c.686T>C	ENST00000556951.6:p.Met229Thr
	ENST00000557293.6:c.649+49T>C
	ENST00000557511.5:c.698T>C	ENST00000557511.5:p.Met233Thr
	ENST00000700265.1:c.686T>C	ENST00000700265.1:p.Met229Thr
	ENST00000700267.1:c.698T>C	ENST00000700267.1:p.Met233Thr
	ENST00000700268.1:c.698T>C	ENST00000700268.1:p.Met233Thr
	ENST00000700269.1:c.698T>C	ENST00000700269.1:p.Met233Thr
	ENST00000700271.1:c.686T>C	ENST00000700271.1:p.Met229Thr
	ENST00000700273.1:c.686T>C	ENST00000700273.1:p.Met229Thr
	ENST00000700306.1:c.698T>C	ENST00000700306.1:p.Met233Thr
	ENST00000700307.1:c.698T>C	ENST00000700307.1:p.Met233Thr
	ENST00000700312.1:c.449T>C	ENST00000700312.1:p.Met150Thr
	ENST00000700313.1:c.686T>C	ENST00000700313.1:p.Met229Thr
	ENST00000700317.1:c.698T>C	ENST00000700317.1:p.Met233Thr
	ENST00000700320.1:c.698T>C	ENST00000700320.1:p.Met233Thr
	ENST00000700321.1:c.698T>C	ENST00000700321.1:p.Met233Thr
	ENST00000700322.1:c.686T>C	ENST00000700322.1:p.Met229Thr
	ENST00000700323.1:c.698T>C	ENST00000700323.1:p.Met233Thr
	ENST00000700324.1:c.686T>C	ENST00000700324.1:p.Met229Thr
	ENST00000700375.1:c.698T>C	ENST00000700375.1:p.Met233Thr
	ENST00000700378.1:c.698T>C	ENST00000700378.1:p.Met233Thr
	ENST00000700389.1:c.686T>C	ENST00000700389.1:p.Met229Thr
	ENST00000700437.1:c.449T>C	ENST00000700437.1:p.Met150Thr
	ENST00000700468.1:c.686T>C	ENST00000700468.1:p.Met229Thr
	ENST00000700469.1:c.686T>C	ENST00000700469.1:p.Met229Thr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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
not provided		no assertion provided	not provided	not provided	Detail
Pathogenic Likely pathogenic	2023-03-21	criteria provided, multiple submitters, no conflicts	Alzheimer disease 3	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.389	Alzheimer's disease	Several causative mutations were identified and confirmed by Sanger sequencing, ...	BeFree	25174650	Detail
0.089	Alzheimer's disease	Several causative mutations were identified and confirmed by Sanger sequencing, ...	BeFree	25174650	Detail
0.003	amyotrophic lateral sclerosis	Several causative mutations were identified and confirmed by Sanger sequencing, ...	BeFree	25174650	Detail
0.438	amyotrophic lateral sclerosis	Several causative mutations were identified and confirmed by Sanger sequencing, ...	BeFree	25174650	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000021.4(PSEN1):c.698T>C (p.Met233Thr) AND not provided	ClinVar	Detail
NM_000021.4(PSEN1):c.698T>C (p.Met233Thr) AND Alzheimer disease 3	ClinVar	Detail
Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M2...	DisGeNET	Detail
Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M2...	DisGeNET	Detail
Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M2...	DisGeNET	Detail
Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M2...	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: rs63751024 dbSNP
Genome: hg38
Position: chr14:73,192,793-73,192,793
Variant Type: snv
Reference Allele: T
Alternative Allele: C

Genome browser