Mutations
SORL1 R1883C
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Overview
Clinical
Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121618816 C>T
Position: (GRCh37/hg19):Chr11:121489525 C>T
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA
Change: Substitution
Expected Protein
Consequence: Missense
Codon
Change: CGC to TGC
Reference
Isoform: SORL1 Isoform 1 (2214 aa)
Genomic
Region: Exon 42
Findings
In a study that included 18,959 Alzheimer’s cases and 21,893 control subjects from multiple European and American cohorts, this allele was observed 12 times—six times among the AD cases and six times among the controls (Henne Holstege, personal communication).
Last Updated: 18 Jul 2024
References
No Available References
Further Reading
No Available Further Reading
Protein Diagram
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