Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121604275 C>A
Position: (GRCh37/hg19):Chr11:121474984 C>A
dbSNP ID: rs372370099
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected Protein Consequence: Nonsense
Codon Change: TGC to TGA
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Exon 33

Findings

In a whole-exome sequencing study of more than 20,000 individuals (6,965 Alzheimer’s disease cases and 13,232 controls) from the Washington Heights-Inwood Columbia Aging Project, the Alzheimer’s Disease Sequencing Project, and the Institute of Genomic Medicine at Columbia University, this protein-truncating variant was found in a single subject—a non-Hispanic white woman with Alzheimer’s disease (Raghavan et al., 2018).

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References

Paper Citations

1. Raghavan NS, Brickman AM, Andrews H, Manly JJ, Schupf N, Lantigua R, Wolock CJ, Kamalakaran S, Petrovski S, Tosto G, Vardarajan BN, Goldstein DB, Mayeux R, Alzheimer's Disease Sequencing Project. Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease. Ann Clin Transl Neurol. 2018 Jul;5(7):832-842. Epub 2018 May 24 PubMed.

Further Reading

No Available Further Reading