chr14:73186859:C>T Detail (hg38) (PSEN1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr14:73,653,567-73,653,567 View the variant detail on this assembly version. |
hg38 | chr14:73,186,859-73,186,859 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000021.3:c.487C>T | NP_000012.1:p.His163Tyr |
NM_007318.2:c.487C>T | NP_015557.2:p.His163Tyr | |
Ensemble | ENST00000324501.10:c.487C>T | ENST00000324501.10:p.His163Tyr |
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 |
---|---|---|---|---|---|
0.320 | Alzheimer disease, familial, type 3 | NA | CLINVAR | Detail | |
0.389 | Alzheimer's disease | Wide range of disease onset in a family with Alzheimer disease and a His163Tyr m... | BeFree | 9605727 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000021.4(PSEN1):c.487C>T (p.His163Tyr) AND Alzheimer disease 3 | ClinVar | Detail |
NM_000021.4(PSEN1):c.487C>T (p.His163Tyr) AND not provided | ClinVar | Detail |
NA | DisGeNET | Detail |
Wide range of disease onset in a family with Alzheimer disease and a His163Tyr mutation in the prese... | 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
- rs63749885 dbSNP
- Genome
- hg38
- Position
- chr14:73,186,859-73,186,859
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser