Mutations

SORL1 c.2911-39C>T

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

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References

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Further Reading

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Protein Diagram

Primary Papers

  1. . 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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