Mutations
SORL1 c.4519+4165C>T
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Overview
Clinical
Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121599937 C>T
Position: (GRCh37/hg19):Chr11:121470646 C>T
dbSNP ID: rs12274541
Coding/Non-Coding: Non-Coding
DNA
Change: Substitution
Reference
Isoform: SORL1 Isoform 1 (2214 aa)
Genomic
Region: Intron 32
Last Updated: 18 Jul 2024
References
No Available References
Further Reading
No Available Further Reading
Protein Diagram
Primary Papers
- Liu G, Sun JY, Xu M, Yang XY, Sun BL. SORL1 Variants Show Different Association with Early-Onset and Late-Onset Alzheimer's Disease Risk. J Alzheimers Dis. 2017;58(4):1121-1128. PubMed.
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