Mutations

PSEN1 D333G

Overview

Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Clinical Phenotype: Dilated Cardiomyopathy
Reference Assembly: GRCh37 (105)
Position: Chr14:73678519 A>G
dbSNP ID: rs121917809
Coding/Non-Coding: Coding
Genomic Region: Exon 10
Mutation Type: Point, Missense
Codon Change: GAT to GGT

Findings

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References

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Further Reading

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Primary Papers

  1. . Mutations of presenilin genes in dilated cardiomyopathy and heart failure. Am J Hum Genet. 2006 Dec;79(6):1030-9. Epub 2006 Oct 24 PubMed.

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