Mutations

SORL1 c.402+430G>A

Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121470553 G>A
Position: (GRCh37/hg19):Chr11:121341262 G>A
dbSNP ID: rs7945931
Coding/Non-Coding: Non-Coding
DNA Change: Substitution
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Intron 2

Last Updated: 18 Jul 2024

Comments

No Available Comments

Make a Comment

To make a comment you must login or register.

References

No Available References

Further Reading

No Available Further Reading

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.

Disclaimer: Alzforum does not provide medical advice. The Content is for informational, educational, research and reference purposes only and is not intended to substitute for professional medical advice, diagnosis or treatment. Always seek advice from a qualified physician or health care professional about any medical concern, and do not disregard professional medical advice because of anything you may read on Alzforum.