chr1:226888979:G>A Detail (hg38) (PSEN2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:227,076,680-227,076,680 View the variant detail on this assembly version. |
hg38 | chr1:226,888,979-226,888,979 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000447.2:c.717G>A | NP_000438.2:p.Met239Ile |
NM_012486.2:c.717G>A | NP_036618.2:p.Met239Ile | |
Ensemble | ENST00000366782.6:c.717G>A | ENST00000366782.6:p.Met239Ile |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.360 | Alzheimer disease 4 | NA | CLINVAR | Detail | |
<0.001 | Memory Loss | We reported a patient with early-onset FAD and the PSEN2 p.Met239Ile mutation, p... | BeFree | 22531416 | Detail |
0.005 | Familial Alzheimer Disease (FAD) | Variable expression of familial Alzheimer disease associated with presenilin 2 m... | BeFree | 10822446 | Detail |
0.003 | Amnesia | We reported a patient with early-onset FAD and the PSEN2 p.Met239Ile mutation, p... | BeFree | 22531416 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000447.3(PSEN2):c.717G>A (p.Met239Ile) AND Alzheimer disease 4 | ClinVar | Detail |
NM_000447.3(PSEN2):c.717G>A (p.Met239Ile) AND not provided | ClinVar | Detail |
NA | DisGeNET | Detail |
We reported a patient with early-onset FAD and the PSEN2 p.Met239Ile mutation, presenting with sever... | DisGeNET | Detail |
Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I. | DisGeNET | Detail |
We reported a patient with early-onset FAD and the PSEN2 p.Met239Ile mutation, presenting with sever... | 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
- rs63749884 dbSNP
- Genome
- hg38
- Position
- chr1:226,888,979-226,888,979
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser