chr14:73683933:G>A Detail (hg19) (PSEN1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr14:73,683,933-73,683,933 |
hg38 | chr14:73,217,225-73,217,225 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000021.3:c.1229G>A | NP_000012.1:p.Cys410Tyr |
NM_007318.2:c.1229G>A | NP_015557.2:p.Cys410Tyr | |
Ensemble | ENST00000357710.8:c.1217G>A | ENST00000357710.8:p.Cys406Tyr |
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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1995-06-29 | no assertion criteria provided | Alzheimer disease 3 |
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Detail |
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no assertion provided | not provided |
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Detail | |
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2017-10-22 | criteria provided, single submitter | Alzheimer disease 3,Acne inversa, familial, 3,frontotemporal dementia,Pick disease |
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Detail |
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2017-10-22 | criteria provided, single submitter | Alzheimer disease 3,Acne inversa, familial, 3,frontotemporal dementia,Pick disease |
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Detail |
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2017-10-22 | criteria provided, single submitter | Alzheimer disease 3,Acne inversa, familial, 3,frontotemporal dementia,Pick disease |
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Detail |
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2017-10-22 | criteria provided, single submitter | Alzheimer disease 3,Acne inversa, familial, 3,frontotemporal dementia,Pick disease |
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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 | |
0.389 | Alzheimer's disease | Presenilin-1 C410Y Alzheimer disease plaques contain synaptic proteins. | BeFree | 17545141 | Detail |
0.320 | Alzheimer disease, familial, type 3 | Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogene... | UNIPROT | 10441572 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) AND Alzheimer disease 3 | ClinVar | Detail |
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) AND not provided | ClinVar | Detail |
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) AND multiple conditions | ClinVar | Detail |
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) AND multiple conditions | ClinVar | Detail |
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) AND multiple conditions | ClinVar | Detail |
NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr) AND multiple conditions | ClinVar | Detail |
NA | DisGeNET | Detail |
Presenilin-1 C410Y Alzheimer disease plaques contain synaptic proteins. | DisGeNET | Detail |
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation sp... | 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
- rs661 dbSNP
- Genome
- hg19
- Position
- chr14:73,683,933-73,683,933
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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