Mutations

SORL1 c.3581-2189C>G

Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121581269 C>G
Position: (GRCh37/hg19):Chr11:121451978 C>G
dbSNP ID: rs7116751
Coding/Non-Coding: Non-Coding
DNA Change: Substitution
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Intron 25

Last Updated: 18 Jul 2024

Comments

  1. To read the paper on bioRĪ‡iv, click here. 

    View all comments by Lucia Huntington

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References

No Available References

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. Marioni RE, Harris SE, Zhang Q, McRae AF, Hagenaars SP, Hill WD, Davies G, Ritchie CW, Gale CR, Starr JM, Goate AM, Porteous DJ, Yang J, Evans KL, Deary IJ, Wray NR, Visscher PM. GWAS on family history of Alzheimer's disease. Transl Psychiatry. 2018 May 18;8(1):99. PubMed.

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