chr14:73198079:A>C Detail (hg38) (PSEN1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr14:73,664,787-73,664,787 View the variant detail on this assembly version. |
| hg38 | chr14:73,198,079-73,198,079 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000021.3:c.818A>C | NP_000012.1:p.Glu273Ala |
| NM_007318.2:c.818A>C | NP_015557.2:p.Glu273Ala | |
| Ensemble | ENST00000324501.10:c.818A>C | ENST00000324501.10:p.Glu273Ala |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 3 |
| GWAS entry | |
| Disease area statistics | 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 | not provided |
not provided
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.389 | Alzheimer's disease | Four different missense mutations of the PS-1 gene, including a novel mutation, ... | BeFree | 9804121 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000021.4(PSEN1):c.818A>C (p.Glu273Ala) AND not provided | ClinVar | Detail |
| Four different missense mutations of the PS-1 gene, including a novel mutation, Glu273Ala, were iden... | 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
- rs63750772 dbSNP
- Genome
- hg38
- Position
- chr14:73,198,079-73,198,079
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser