Mutations
SORL1 c.286-5553T>C
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Overview
Clinical
Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121464454 T>C
Position: (GRCh37/hg19):Chr11:121335163 T>C
dbSNP ID: rs3781825
Coding/Non-Coding: Non-Coding
DNA
Change: Substitution
Reference
Isoform: SORL1 Isoform 1 (2214 aa)
Genomic
Region: Intron 1
Last Updated: 18 Jul 2024
References
No Available References
Further Reading
No Available Further Reading
Protein Diagram
Primary Papers
- Lin E, Tsai SJ, Kuo PH, Liu YL, Yang AC, Kao CF. Association and interaction effects of Alzheimer's disease-associated genes and lifestyle on cognitive aging in older adults in a Taiwanese population. Oncotarget. 2017 Apr 11;8(15):24077-24087. PubMed.
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