Mutations

SORL1 c.286-2723G>A

Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121467284 G>A
Position: (GRCh37/hg19):Chr11:121337993 G>A
dbSNP ID: rs1784934
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. Webster JA, Myers AJ, Pearson JV, Craig DW, Hu-Lince D, Coon KD, Zismann VL, Beach T, Leung D, Bryden L, Halperin RF, Marlowe L, Kaleem M, Huentelman MJ, Joshipura K, Walker D, Heward CB, Ravid R, Rogers J, Papassotiropoulos A, Hardy J, Reiman EM, Stephan DA. Sorl1 as an Alzheimer's disease predisposition gene?. Neurodegener Dis. 2008;5(2):60-4. PubMed.

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