Mutations

SORL1 c.5604+788C>A

Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121615843 C>A
Position: (GRCh37/hg19):Chr11:121486552 C>A
dbSNP ID: rs1503415
Coding/Non-Coding: Non-Coding
DNA Change: Substitution
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Intron 41

Last Updated: 18 Jul 2024

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References

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Further Reading

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Protein Diagram

Primary Papers

  1. Driscoll I, Snively BM, Espeland MA, Shumaker SA, Rapp SR, Goveas JS, Casanova RL, Wactawski-Wende J, Manson JE, Rossom R, Brooks J, Hernandez DG, Singleton AB, Resnick SM. A candidate gene study of risk for dementia in older, postmenopausal women: Results from the Women's Health Initiative Memory Study. Int J Geriatr Psychiatry. 2019 May;34(5):692-699. Epub 2019 Mar 7 PubMed.

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