Pathogenicity: Alzheimer's Disease : Unclear Pathogenicity
Clinical Phenotype: Dilated Cardiomyopathy
Reference Assembly: GRCh37 (105)
Position: Chr14:73678519 A>G
dbSNP ID: rs121917809
Genomic Region: Exon 10
Mutation Type: Point, Missense
Codon Change: GAT to GGT
No Available References
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- Li D, Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Partain J, Nixon RR, Allen CN, Irwin RP, Jakobs PM, Litt M, Hershberger RE. 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.