Mutations

SORL1 c.402+1255G>A

Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121471378 G>A
Position: (GRCh37/hg19):Chr11:121342087 G>A
dbSNP ID: rs11218301
Coding/Non-Coding: Non-Coding
DNA Change: Substitution
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Intron 2

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. McCarthy JJ, Saith S, Linnertz C, Burke JR, Hulette CM, Welsh-Bohmer KA, Chiba-Falek O. The Alzheimer's associated 5' region of the SORL1 gene cis regulates SORL1 transcripts expression. Neurobiol Aging. 2010 Dec 22; PubMed.

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