Variant: rs199473684 

    present in Gene: GLA;RPL36A-HNRNPH2
    present in Chromosome: X
    Position on Chromosome: 101399747
    Alleles of this Variant: C/T

rs199473684 in GLA;RPL36A-HNRNPH2 gene and Fabry Disease PMID 27931613 2016 Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.

PMID 28430823 2017 Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease.

PMID 28082092 2017 Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease.

PMID 11828341 2002 Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype.

PMID 23109060 2013 Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation.

PMID 22437327 2012 Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.

PMID 27554049 2017 Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy.

PMID 27595546 2016 The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer.

PMID 25611685 2015 Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

PMID 28377241 2017 Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease.

PMID 20031620 2009 High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population.

PMID 20821055 2010 Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A).

PMID 19823873 2010 Transposable elements in disease-associated cryptic exons.

PMID 19621417 2009 Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

rs199473684 in GLA;RPL36A-HNRNPH2 gene and Hypertrophic Cardiomyopathy PMID 22437327 2012 Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.

PMID 28082092 2017 Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease.

PMID 27595546 2016 The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer.

PMID 20031620 2009 High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population.

PMID 19621417 2009 Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

PMID 11828341 2002 Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype.

PMID 19823873 2010 Transposable elements in disease-associated cryptic exons.

PMID 27931613 2016 Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.

PMID 28430823 2017 Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease.

PMID 20821055 2010 Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A).

PMID 27554049 2017 Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy.

PMID 23109060 2013 Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation.

PMID 28377241 2017 Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease.