Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121452423 G>A
Position: (GRCh37/hg19):Chr11:121323132 G>A
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected Protein Consequence: Nonsense
Codon Change: TGG to TAG
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Exon 1

Findings

This protein-truncating variant was found in one Alzheimer’s case from the Netherlands Brain Bank in a study that included 445 European AD cases and 52 cognitively normal controls (Nicolas et al., 2018).

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References

Paper Citations

1. Nicolas G, Acuña-Hidalgo R, Keogh MJ, Quenez O, Steehouwer M, Lelieveld S, Rousseau S, Richard AC, Oud MS, Marguet F, Laquerrière A, Morris CM, Attems J, Smith C, Ansorge O, Al Sarraj S, Frebourg T, Campion D, Hannequin D, Wallon D, Gilissen C, Chinnery PF, Veltman JA, Hoischen A. Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease. Alzheimers Dement. 2018 Dec;14(12):1632-1639. Epub 2018 Aug 13 PubMed.

Further Reading

No Available Further Reading