chr14:73664775:G>A Detail (hg19) (PSEN1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:73,664,775-73,664,775 |
| hg38 | chr14:73,198,067-73,198,067 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000021.3:c.806G>A | NP_000012.1:p.Arg269His |
| NM_007318.2:c.806G>A | NP_015557.2:p.Arg269His | |
| Ensemble | ENST00000324501.10:c.806G>A | ENST00000324501.10:p.Arg269His |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 3 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:<0.001 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University | ||||
|
Pathogenic
|
Early onset Alzheimer's disease |
germline
|
MGS000075
(TMGS000147) |
Takeshi Ikeuchi |
Niigata University JFADdb |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
not provided
|
no assertion provided | Alzheimer disease 4 |
unknown
|
Detail | |
|
Pathogenic
|
2022-02-18 | criteria provided, multiple submitters, no conflicts | not provided |
germline
not provided
unknown
|
Detail |
|
Pathogenic
|
2024-01-31 | criteria provided, single submitter | Alzheimer disease 3,Acne inversa, familial, 3,Pick disease,frontotemporal dementia |
germline
|
Detail |
|
Pathogenic
|
2024-01-31 | criteria provided, single submitter | Alzheimer disease 3,Acne inversa, familial, 3,Pick disease,frontotemporal dementia |
germline
|
Detail |
|
Pathogenic
|
2024-01-31 | criteria provided, single submitter | Alzheimer disease 3,Acne inversa, familial, 3,Pick disease,frontotemporal dementia |
germline
|
Detail |
|
Pathogenic
|
2024-01-31 | criteria provided, single submitter | Alzheimer disease 3,Acne inversa, familial, 3,Pick disease,frontotemporal dementia |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.002 | Neurofibrillary degeneration (morphologic abnormality) | Some of the PS1 mutations studied (M139V, I143F, G209V, R269H, E280A), but not o... | BeFree | 10468510 | Detail |
| 0.120 | Alzheimer disease 4 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000021.4(PSEN1):c.806G>A (p.Arg269His) AND Alzheimer disease 4 | ClinVar | Detail |
| NM_000021.4(PSEN1):c.806G>A (p.Arg269His) AND not provided | ClinVar | Detail |
| NM_000021.4(PSEN1):c.806G>A (p.Arg269His) AND multiple conditions | ClinVar | Detail |
| NM_000021.4(PSEN1):c.806G>A (p.Arg269His) AND multiple conditions | ClinVar | Detail |
| NM_000021.4(PSEN1):c.806G>A (p.Arg269His) AND multiple conditions | ClinVar | Detail |
| NM_000021.4(PSEN1):c.806G>A (p.Arg269His) AND multiple conditions | ClinVar | Detail |
| Some of the PS1 mutations studied (M139V, I143F, G209V, R269H, E280A), but not others, were also ass... | DisGeNET | 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
- rs63750900 dbSNP
- Genome
- hg19
- Position
- chr14:73,664,775-73,664,775
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs63750900
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8520
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 114924
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.701402666109778E-6
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