Variant: rs104894857

present in Gene: LAMP2 present in Chromosome: X Position on Chromosome: 120449006 Alleles of this Variant: G/A

rs104894857 in LAMP2 gene and Glycogen Storage Disease Type IIb PMID 15253947 2004 Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey.

PMID 27678261 2016 Using whole-exome sequencing, we identified a nonsense mutation (c.520C>T, exon 4) of the LAMP2 gene in a family with Danon disease.