Mutations

SORL1 c.*267T>C

Overview

Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37/hg19
Position: Chr11:121500539 T>C
dbSNP ID: rs189323512
Coding/Non-Coding: Non-Coding
DNA Change: Substitution
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: 3' UTR

Last Updated: 18 Jul 2023

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References

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Further Reading

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Protein Diagram

Primary Papers

  1. Zhang F, Liu X, Wang B, Cheng Z, Zhao X, Zhu J, Wang D, Wang Y, Dong A, Li P, Jin C. An exploratory study of the association between SORL1 polymorphisms and sporadic Alzheimer's disease in the Han Chinese population. Neuropsychiatr Dis Treat. 2015;11:1443-8. Epub 2015 Jun 12 PubMed.

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