Mutations

SORL1 c.4519+4165C>T

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

Findings

This variant is one of 31 intronic variants in SORL1 that compose a haplotype associated with a reduced risk of Alzheimer’s disease and with certain AD-related endophenotypes in people of East Asian ancestry (Zhou et al., 2024).

Last Updated: 27 Jan 2025

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References

Paper Citations

  1. Zhou X, Cao H, Jiang Y, Chen Y, Zhong H, Fu WY, Lo RM, Wong BW, Cheng EY, Mok KY, Kwok TC, Mok VC, Ip FC, Alzheimer's Disease Neuroimaging Initiative, Miyashita A, Hara N, Ikeuchi T, Hardy J, Chen Y, Fu AK, Ip NY. Transethnic analysis identifies SORL1 variants and haplotypes protective against Alzheimer's disease. Alzheimers Dement. 2025 Jan;21(1):e14214. Epub 2024 Dec 10 PubMed.

Further Reading

Protein Diagram

Primary Papers

  1. Zhou X, Cao H, Jiang Y, Chen Y, Zhong H, Fu WY, Lo RM, Wong BW, Cheng EY, Mok KY, Kwok TC, Mok VC, Ip FC, Alzheimer's Disease Neuroimaging Initiative, Miyashita A, Hara N, Ikeuchi T, Hardy J, Chen Y, Fu AK, Ip NY. Transethnic analysis identifies SORL1 variants and haplotypes protective against Alzheimer's disease. Alzheimers Dement. 2025 Jan;21(1):e14214. Epub 2024 Dec 10 PubMed.
  2. 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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