chr14:73219161:G>C 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	chr14:73,685,869-73,685,869 View the variant detail on this assembly version.
hg38	chr14:73,219,161-73,219,161

HGVS

PSEN1

Type	Transcript	Protein
RefSeq	NM_000021.3:c.1276G>C	NP_000012.1:p.Ala426Pro
	NM_007318.2:c.1276G>C	NP_015557.2:p.Ala426Pro
Ensemble	ENST00000324501.10:c.1276G>C	ENST00000324501.10:p.Ala426Pro
	ENST00000357710.8:c.1264G>C	ENST00000357710.8:p.Ala422Pro
	ENST00000394164.5:c.1264G>C	ENST00000394164.5:p.Ala422Pro
	ENST00000553599.6:c.1264G>C	ENST00000553599.6:p.Ala422Pro
	ENST00000554131.6:c.1276G>C	ENST00000554131.6:p.Ala426Pro
	ENST00000556951.6:c.1264G>C	ENST00000556951.6:p.Ala422Pro
	ENST00000557293.6:c.1156G>C	ENST00000557293.6:p.Ala386Pro
	ENST00000557511.5:c.1102G>C	ENST00000557511.5:p.Ala368Pro
	ENST00000700265.1:c.1264G>C	ENST00000700265.1:p.Ala422Pro
	ENST00000700267.1:c.1276G>C	ENST00000700267.1:p.Ala426Pro
	ENST00000700268.1:c.1276G>C	ENST00000700268.1:p.Ala426Pro
	ENST00000700269.1:c.1276G>C	ENST00000700269.1:p.Ala426Pro
	ENST00000700271.1:c.1090G>C	ENST00000700271.1:p.Ala364Pro
	ENST00000700273.1:c.1264G>C	ENST00000700273.1:p.Ala422Pro
	ENST00000700306.1:c.1276G>C	ENST00000700306.1:p.Ala426Pro
	ENST00000700307.1:c.1177G>C	ENST00000700307.1:p.Ala393Pro
	ENST00000700312.1:c.1027G>C	ENST00000700312.1:p.Ala343Pro
	ENST00000700313.1:c.1264G>C	ENST00000700313.1:p.Ala422Pro
	ENST00000700317.1:c.1276G>C	ENST00000700317.1:p.Ala426Pro
	ENST00000700320.1:c.1303G>C	ENST00000700320.1:p.Ala435Pro
	ENST00000700321.1:c.1276G>C	ENST00000700321.1:p.Ala426Pro
	ENST00000700322.1:c.1264G>C	ENST00000700322.1:p.Ala422Pro
	ENST00000700323.1:c.1276G>C	ENST00000700323.1:p.Ala426Pro
	ENST00000700324.1:c.1264G>C	ENST00000700324.1:p.Ala422Pro
	ENST00000700375.1:c.1276G>C	ENST00000700375.1:p.Ala426Pro
	ENST00000700378.1:c.1276G>C	ENST00000700378.1:p.Ala426Pro
	ENST00000700389.1:c.1264G>C	ENST00000700389.1:p.Ala422Pro
	ENST00000700437.1:c.1027G>C	ENST00000700437.1:p.Ala343Pro
	ENST00000700468.1:c.1165G>C	ENST00000700468.1:p.Ala389Pro
	ENST00000700469.1:c.1264G>C	ENST00000700469.1:p.Ala422Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
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
Pathogenic	1998-01-01	no assertion criteria provided	Alzheimer disease 3	germline	Detail
Likely pathogenic	2022-10-19	criteria provided, multiple submitters, no conflicts	not provided	germline not provided	Detail
Likely pathogenic	2021-12-16	criteria provided, single submitter	frontotemporal dementia,Pick disease,Acne inversa, familial, 3,dilated cardiomyopathy 1U,Alzheimer disease 3	unknown	Detail
Likely pathogenic	2021-12-16	criteria provided, single submitter	frontotemporal dementia,Pick disease,Acne inversa, familial, 3,dilated cardiomyopathy 1U,Alzheimer disease 3	unknown	Detail
Likely pathogenic	2021-12-16	criteria provided, single submitter	frontotemporal dementia,Pick disease,Acne inversa, familial, 3,dilated cardiomyopathy 1U,Alzheimer disease 3	unknown	Detail
Likely pathogenic	2021-12-16	criteria provided, single submitter	frontotemporal dementia,Pick disease,Acne inversa, familial, 3,dilated cardiomyopathy 1U,Alzheimer disease 3	unknown	Detail
Likely pathogenic	2021-12-16	criteria provided, single submitter	frontotemporal dementia,Pick disease,Acne inversa, familial, 3,dilated cardiomyopathy 1U,Alzheimer disease 3	unknown	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.1276G>C (p.Ala426Pro) AND Alzheimer disease 3	ClinVar	Detail
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) AND not provided	ClinVar	Detail
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) AND multiple conditions	ClinVar	Detail
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro) AND multiple conditions	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: rs63751223 dbSNP
Genome: hg38
Position: chr14:73,219,161-73,219,161
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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