Mutations

SORL1 c.939+2958C>T

Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121500007 C>T
Position: (GRCh37/hg19):Chr11:121370716 C>T
dbSNP ID: rs753780
Coding/Non-Coding: Non-Coding
DNA Change: Substitution
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Intron 6

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. Yin RH, Li J, Tan L, Wang HF, Tan MS, Yu WJ, Tan CC, Yu JT, Tan L, Alzheimer’s Disease Neuroimaging Initiative. Impact of SORL1 genetic variations on MRI markers in non-demented elders. Oncotarget. 2016 May 31;7(22):31689-98. PubMed.

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