chr14:73192793:T>C Detail (hg38) (PSEN1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr14:73,659,501-73,659,501 View the variant detail on this assembly version. |
hg38 | chr14:73,192,793-73,192,793 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000021.3:c.698T>C | NP_000012.1:p.Met233Thr |
NM_007318.2:c.698T>C | NP_015557.2:p.Met233Thr | |
Ensemble | ENST00000324501.10:c.698T>C | ENST00000324501.10:p.Met233Thr |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.389 | Alzheimer's disease | Several causative mutations were identified and confirmed by Sanger sequencing, ... | BeFree | 25174650 | Detail |
0.089 | Alzheimer's disease | Several causative mutations were identified and confirmed by Sanger sequencing, ... | BeFree | 25174650 | Detail |
0.003 | amyotrophic lateral sclerosis | Several causative mutations were identified and confirmed by Sanger sequencing, ... | BeFree | 25174650 | Detail |
0.438 | amyotrophic lateral sclerosis | Several causative mutations were identified and confirmed by Sanger sequencing, ... | BeFree | 25174650 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000021.4(PSEN1):c.698T>C (p.Met233Thr) AND not provided | ClinVar | Detail |
NM_000021.4(PSEN1):c.698T>C (p.Met233Thr) AND Alzheimer disease 3 | ClinVar | Detail |
Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M2... | DisGeNET | Detail |
Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M2... | DisGeNET | Detail |
Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M2... | DisGeNET | Detail |
Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M2... | 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
- rs63751024 dbSNP
- Genome
- hg38
- Position
- chr14:73,192,793-73,192,793
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
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