Mutations

SORL1 c.3338-139G>C

Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121574102 G>C
Position: (GRCh37/hg19):Chr11:121444811 G>C
dbSNP ID: rs17125473
Coding/Non-Coding: Non-Coding
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Intron 23

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

Comments

No Available Comments

Make a Comment

To make a comment you must login or register.

References

Mutations Citations

  1. SORL1 Haplotype A

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.

Alzpedia

Disclaimer: Alzforum does not provide medical advice. The Content is for informational, educational, research and reference purposes only and is not intended to substitute for professional medical advice, diagnosis or treatment. Always seek advice from a qualified physician or health care professional about any medical concern, and do not disregard professional medical advice because of anything you may read on Alzforum.