Mutations

SORL1 c.940-7761A>G

Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121505242 A>G
Position: (GRCh37/hg19):Chr11:121375951 A>G
dbSNP ID: rs4598682
Coding/Non-Coding: Non-Coding
DNA Change: Substitution
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Intron 6

Last Updated: 18 Jul 2024

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Further Reading

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Protein Diagram

Primary Papers

  1. Wen Y, Miyashita A, Kitamura N, Tsukie T, Saito Y, Hatsuta H, Murayama S, Kakita A, Takahashi H, Akatsu H, Yamamoto T, Kosaka K, Yamaguchi H, Akazawa K, Ihara Y, Kuwano R. SORL1 is genetically associated with neuropathologically characterized late-onset Alzheimer's disease. J Alzheimers Dis. 2013;35(2):387-94. PubMed.

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