Mutations

SORL1 c.285+4712C>A

Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121457328 C>A
Position: (GRCh37/hg19):Chr11:121328037 C>A
dbSNP ID: rs536360
Coding/Non-Coding: Non-Coding
DNA Change: Substitution
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Intron 1

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. Lee JH, Chulikavit M, Pang D, Zigman WB, Silverman W, Schupf N. Association between genetic variants in sortilin-related receptor 1 (SORL1) and Alzheimer's disease in adults with Down syndrome. Neurosci Lett. 2007 Sep 25;425(2):105-9. PubMed.

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