Mutations

SORL1 c.285+882T>C

Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121453498 T>C
Position: (GRCh37/hg19):Chr11:121324207 T>C
dbSNP ID: rs17125349
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. . Sorl1 as an Alzheimer's disease predisposition gene?. Neurodegener Dis. 2008;5(2):60-4. PubMed.

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