Mutations
SORL1 c.285+882T>C
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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
References
No Available References
Further Reading
No Available Further Reading
Protein Diagram
Primary Papers
- 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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