chr14:73198100:A>G Detail (hg38) (PSEN1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr14:73,664,808-73,664,808 View the variant detail on this assembly version. |
hg38 | chr14:73,198,100-73,198,100 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000021.3:c.839A>G | NP_000012.1:p.Glu280Gly |
NM_007318.2:c.839A>G | NP_015557.2:p.Glu280Gly | |
Ensemble | ENST00000324501.10:c.839A>G | ENST00000324501.10:p.Glu280Gly |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2022-10-04 | criteria provided, single submitter | Alzheimer disease 3 |
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Detail |
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2003-10-14 | no assertion criteria provided | Alzheimer disease, familial, with spastic paraparesis and unusual plaques |
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Detail |
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2023-01-01 | criteria provided, single submitter | not provided |
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Detail |
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2022-08-19 | criteria provided, single submitter | Alzheimer disease 3,Pick disease,Acne inversa, familial, 3,frontotemporal dementia |
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Detail |
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2022-08-19 | criteria provided, single submitter | Alzheimer disease 3,Pick disease,Acne inversa, familial, 3,frontotemporal dementia |
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Detail |
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2022-08-19 | criteria provided, single submitter | Alzheimer disease 3,Pick disease,Acne inversa, familial, 3,frontotemporal dementia |
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Detail |
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2022-08-19 | criteria provided, single submitter | Alzheimer disease 3,Pick disease,Acne inversa, familial, 3,frontotemporal dementia |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.320 | Alzheimer disease, familial, type 3 | NA | CLINVAR | Detail | |
0.002 | Neurofibrillary degeneration (morphologic abnormality) | Some of the PS1 mutations studied (M139V, I143F, G209V, R269H, E280A), but not o... | BeFree | 10468510 | Detail |
0.003 | Impaired cognition | Clinical deterioration can be detected as measurable cognitive impairment around... | BeFree | 21296022 | Detail |
0.389 | Alzheimer's disease | The findings support the notion that a deficit in the mechanism responsible for ... | BeFree | 25352452 | Detail |
0.015 | Familial Alzheimer Disease (FAD) | They have been found to be affected in patients who meet criteria for familial A... | BeFree | 25762465 | Detail |
0.389 | Alzheimer's disease | To obtain in vivo information about how PS1 mutations cause AD pathology at such... | BeFree | 8837617 | Detail |
0.015 | Familial Alzheimer Disease (FAD) | In this exploratory study, we sequenced the complete genomes of six individuals ... | BeFree | 22829467 | Detail |
0.012 | Presenile dementia | Pre-dementia clinical stages in presenilin 1 E280A familial early-onset Alzheime... | BeFree | 21296022 | Detail |
0.046 | dementia | Pre-dementia clinical stages in presenilin 1 E280A familial early-onset Alzheime... | BeFree | 21296022 | Detail |
0.012 | Presenile dementia | Participants with SAD met the criteria for dementia and were negative for the E2... | BeFree | 10923058 | Detail |
0.009 | Alzheimer Disease, Early Onset | We studied 75 subjects from the largest multigenerational pedigree in the world ... | BeFree | 24239247 | Detail |
0.009 | Alzheimer Disease, Early Onset | Clinical features of early-onset Alzheimer disease in a large kindred with an E2... | BeFree | 9052708 | Detail |
0.005 | Seizures | This study aimed to determine the neuronal loss in CA1 hippocampal region from p... | BeFree | 15230697 | Detail |
0.009 | Alzheimer Disease, Early Onset | Origin of the PSEN1 E280A mutation causing early-onset Alzheimer's disease. | BeFree | 24239249 | Detail |
0.046 | dementia | Participants with SAD met the criteria for dementia and were negative for the E2... | BeFree | 10923058 | Detail |
<0.001 | epilepsy | CA1 hippocampal neuronal loss in familial Alzheimer's disease presenilin-1 E280A... | BeFree | 15230697 | Detail |
<0.001 | Alzheimer's disease | To identify individuals at risk for Alzheimer disease (AD) we used high-density ... | BeFree | 21775732 | Detail |
0.389 | Alzheimer's disease | Associations between biomarkers and age in the presenilin 1 E280A autosomal domi... | BeFree | 25580592 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly) AND Alzheimer disease 3 | ClinVar | Detail |
NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly) AND Alzheimer disease, familial, with spastic paraparesis ... | ClinVar | Detail |
NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly) AND not provided | ClinVar | Detail |
NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly) AND multiple conditions | ClinVar | Detail |
NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly) AND multiple conditions | ClinVar | Detail |
NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly) AND multiple conditions | ClinVar | Detail |
NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly) AND multiple conditions | ClinVar | Detail |
NA | DisGeNET | Detail |
Some of the PS1 mutations studied (M139V, I143F, G209V, R269H, E280A), but not others, were also ass... | DisGeNET | Detail |
Clinical deterioration can be detected as measurable cognitive impairment around two decades before ... | DisGeNET | Detail |
The findings support the notion that a deficit in the mechanism responsible for coordinating the per... | DisGeNET | Detail |
They have been found to be affected in patients who meet criteria for familial Alzheimer's disease d... | DisGeNET | Detail |
To obtain in vivo information about how PS1 mutations cause AD pathology at such early ages, we char... | DisGeNET | Detail |
In this exploratory study, we sequenced the complete genomes of six individuals with familial Alzhei... | DisGeNET | Detail |
Pre-dementia clinical stages in presenilin 1 E280A familial early-onset Alzheimer's disease: a retro... | DisGeNET | Detail |
Pre-dementia clinical stages in presenilin 1 E280A familial early-onset Alzheimer's disease: a retro... | DisGeNET | Detail |
Participants with SAD met the criteria for dementia and were negative for the E280A presenilin 1 mut... | DisGeNET | Detail |
We studied 75 subjects from the largest multigenerational pedigree in the world (∼5000 people) that ... | DisGeNET | Detail |
Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mut... | DisGeNET | Detail |
This study aimed to determine the neuronal loss in CA1 hippocampal region from patients bearing the ... | DisGeNET | Detail |
Origin of the PSEN1 E280A mutation causing early-onset Alzheimer's disease. | DisGeNET | Detail |
Participants with SAD met the criteria for dementia and were negative for the E280A presenilin 1 mut... | DisGeNET | Detail |
CA1 hippocampal neuronal loss in familial Alzheimer's disease presenilin-1 E280A mutation is related... | DisGeNET | Detail |
To identify individuals at risk for Alzheimer disease (AD) we used high-density ERPs to examine brai... | DisGeNET | Detail |
Associations between biomarkers and age in the presenilin 1 E280A autosomal dominant Alzheimer disea... | 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
- rs63750231 dbSNP
- Genome
- hg38
- Position
- chr14:73,198,100-73,198,100
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
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