Mutations
SORL1 c.2911-39C>T
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Overview
Clinical
Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121559480 C>T
Position: (GRCh37/hg19):Chr11:121430189 C>T
dbSNP ID: rs186873977
Coding/Non-Coding: Non-Coding
DNA
Change: Substitution
Reference
Isoform: SORL1 Isoform 1 (2214 aa)
Genomic
Region: Intron 20
Last Updated: 18 Jul 2024
References
No Available References
Further Reading
No Available Further Reading
Protein Diagram
Primary Papers
- Holstege H, van der Lee SJ, Hulsman M, Wong TH, van Rooij JG, Weiss M, Louwersheimer E, Wolters FJ, Amin N, Uitterlinden AG, Hofman A, Ikram MA, van Swieten JC, Meijers-Heijboer H, van der Flier WM, Reinders MJ, van Duijn CM, Scheltens P. Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy. Eur J Hum Genet. 2017 Aug;25(8):973-981. Epub 2017 May 24 PubMed.
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