Mutations

SORL1 c.1596+16C>T

Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121523005 C>T
Position: (GRCh37/hg19):Chr11:121393714 C>T
dbSNP ID: rs746124531
Coding/Non-Coding: Non-Coding
DNA Change: Substitution
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Intron 11

Last Updated: 18 Jul 2024

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Further Reading

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Protein Diagram

Primary Papers

  1. 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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