Mutations

SORL1 c.2051+49A>C

Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121545478 A>C
Position: (GRCh37/hg19):Chr11:121416187 A>C
dbSNP ID: rs11218325
Coding/Non-Coding: Non-Coding
DNA Change: Substitution
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Intron 14

Last Updated: 18 Jul 2024

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Further Reading

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Protein Diagram

Primary Papers

  1. Bralten J, Arias-Vásquez A, Makkinje R, Veltman JA, Brunner HG, Fernández G, Rijpkema M, Franke B. Association of the Alzheimer's gene SORL1 with hippocampal volume in young, healthy adults. Am J Psychiatry. 2011 Oct;168(10):1083-9. PubMed.

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