Variant: rs1557196978 

    present in Gene: ATP6AP1
    present in Chromosome: X
    Position on Chromosome: 154432444
    Alleles of this Variant: T/G

rs1557196978 in ATP6AP1 gene and Abnormality of copper homeostasis PMID 29396028 2018 Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.

rs1557196978 in ATP6AP1 gene and Abnormality of the immune system PMID 29396028 2018 Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.

rs1557196978 in ATP6AP1 gene and Cutis Laxa PMID 29396028 2018 Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.

rs1557196978 in ATP6AP1 gene and Decreased serum ceruloplasmin PMID 29396028 2018 Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.

rs1557196978 in ATP6AP1 gene and Exocrine pancreatic insufficiency PMID 29396028 2018 Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.

rs1557196978 in ATP6AP1 gene and Hepatosplenomegaly PMID 29396028 2018 Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.

rs1557196978 in ATP6AP1 gene and IMMUNODEFICIENCY 47 PMID 29396028 2018 Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.

rs1557196978 in ATP6AP1 gene and Muscle hypotonia PMID 29396028 2018 Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.