Variant: rs104894836 

    present in Gene: HNRNPH2;RPL36A-HNRNPH2;GLA
    present in Chromosome: X
    Position on Chromosome: 101407738
    Alleles of this Variant: A/C

rs104894836 in HNRNPH2;RPL36A-HNRNPH2;GLA gene and Fabry Disease PMID 11076046 2000 Identification of four novel mutations in five unrelated Korean families with Fabry disease.

PMID 10838196 2000 Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.

PMID 2152885 1990 A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.

PMID 1846223 1991 An atypical variant of Fabry's disease with manifestations confined to the myocardium.

PMID 12735292 2002 Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

PMID 1315715 1992 Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.

PMID 11295840 2001 Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.

PMID 12786754 2003 Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.

PMID 16980809 2006 Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 2171331 1990 Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.

PMID 21934708 2012 Clinical utility gene card for: Fabry disease.

PMID 20610207 2010 HFSA 2010 Comprehensive Heart Failure Practice Guideline.

PMID 10666480 1999 Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.

PMID 25173338 2014 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

PMID 25355838 2014 Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.

PMID 10208848 1999 Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.

PMID 9105656 1997 Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.

PMID 7504405 1993 Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.

PMID 26415523 2016 Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 8069316 1994 Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.

PMID 9452111 1998 Mutation analysis in 11 French patients with Fabry disease.

PMID 9452090 1998 Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.

PMID 27142856 2016 Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.

PMID 7596372 1995 An atypical variant of Fabry's disease in men with left ventricular hypertrophy.

PMID 23860966 2013 Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 7759078 1995 Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.

PMID 2539398 1989 Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.