chr14:73192798:C>G 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	chr14:73,659,506-73,659,506 View the variant detail on this assembly version.
hg38	chr14:73,192,798-73,192,798

HGVS

PSEN1

Type	Transcript	Protein
RefSeq	NM_000021.3:c.703C>G	NP_000012.1:p.Leu235Val
	NM_007318.2:c.703C>G	NP_015557.2:p.Leu235Val
Ensemble	ENST00000324501.10:c.703C>G	ENST00000324501.10:p.Leu235Val
	ENST00000357710.8:c.691C>G	ENST00000357710.8:p.Leu231Val
	ENST00000394164.5:c.691C>G	ENST00000394164.5:p.Leu231Val
	ENST00000553599.6:c.691C>G	ENST00000553599.6:p.Leu231Val
	ENST00000554131.6:c.703C>G	ENST00000554131.6:p.Leu235Val
	ENST00000556951.6:c.691C>G	ENST00000556951.6:p.Leu231Val
	ENST00000557293.6:c.649+54C>G
	ENST00000557511.5:c.703C>G	ENST00000557511.5:p.Leu235Val
	ENST00000700265.1:c.691C>G	ENST00000700265.1:p.Leu231Val
	ENST00000700267.1:c.703C>G	ENST00000700267.1:p.Leu235Val
	ENST00000700268.1:c.703C>G	ENST00000700268.1:p.Leu235Val
	ENST00000700269.1:c.703C>G	ENST00000700269.1:p.Leu235Val
	ENST00000700271.1:c.691C>G	ENST00000700271.1:p.Leu231Val
	ENST00000700273.1:c.691C>G	ENST00000700273.1:p.Leu231Val
	ENST00000700306.1:c.703C>G	ENST00000700306.1:p.Leu235Val
	ENST00000700307.1:c.703C>G	ENST00000700307.1:p.Leu235Val
	ENST00000700312.1:c.454C>G	ENST00000700312.1:p.Leu152Val
	ENST00000700313.1:c.691C>G	ENST00000700313.1:p.Leu231Val
	ENST00000700317.1:c.703C>G	ENST00000700317.1:p.Leu235Val
	ENST00000700320.1:c.703C>G	ENST00000700320.1:p.Leu235Val
	ENST00000700321.1:c.703C>G	ENST00000700321.1:p.Leu235Val
	ENST00000700322.1:c.691C>G	ENST00000700322.1:p.Leu231Val
	ENST00000700323.1:c.703C>G	ENST00000700323.1:p.Leu235Val
	ENST00000700324.1:c.691C>G	ENST00000700324.1:p.Leu231Val
	ENST00000700375.1:c.703C>G	ENST00000700375.1:p.Leu235Val
	ENST00000700378.1:c.703C>G	ENST00000700378.1:p.Leu235Val
	ENST00000700389.1:c.691C>G	ENST00000700389.1:p.Leu231Val
	ENST00000700437.1:c.454C>G	ENST00000700437.1:p.Leu152Val
	ENST00000700468.1:c.691C>G	ENST00000700468.1:p.Leu231Val
	ENST00000700469.1:c.691C>G	ENST00000700469.1:p.Leu231Val

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
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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
Conflicting interpretations of pathogenicity	2023-10-12	criteria provided, conflicting interpretations	not provided	germline not provided	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	clinical depression	Finally, we demonstrate that the two PS-1 variants reported to be associated wit...	BeFree	21373759	Detail
<0.001	clinical depression	Finally, we demonstrate that the two PS-1 variants reported to be associated wit...	BeFree	21373759	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000021.4(PSEN1):c.703C>G (p.Leu235Val) AND not provided	ClinVar	Detail
Finally, we demonstrate that the two PS-1 variants reported to be associated with an increased incid...	DisGeNET	Detail
Finally, we demonstrate that the two PS-1 variants reported to be associated with an increased incid...	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: rs63751130 dbSNP
Genome: hg38
Position: chr14:73,192,798-73,192,798
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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