Variant: rs1557100594 

    present in Gene: AVPR2
    present in Chromosome: X
    Position on Chromosome: 153905887
    Alleles of this Variant: TAC/-

rs1557100594 in AVPR2 gene and Dysmorphic features PMID 26131744 2015 Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis.

PMID 22427315 2012 Congenital nephrogenic diabetes insipidus: the current state of affairs.

PMID 26077742 2015 Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus.

PMID 18584216 2008 Long-term growth of children with nephrogenic diabetes insipidus.

PMID 22386940 2012 Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature.

PMID 20459358 2010 Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus.

PMID 10477148 1999 Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus.

PMID 15129813 2004 A novel deletion mutation in the arginine vasopressin receptor 2 gene and skewed X chromosome inactivation in a female patient with congenital nephrogenic diabetes insipidus.

PMID 15872203 2005 Nephrogenic syndrome of inappropriate antidiuresis.

rs1557100594 in AVPR2 gene and Overgrowth PMID 22427315 2012 Congenital nephrogenic diabetes insipidus: the current state of affairs.

PMID 18584216 2008 Long-term growth of children with nephrogenic diabetes insipidus.

PMID 15129813 2004 A novel deletion mutation in the arginine vasopressin receptor 2 gene and skewed X chromosome inactivation in a female patient with congenital nephrogenic diabetes insipidus.

PMID 22386940 2012 Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature.

PMID 26077742 2015 Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus.

PMID 26131744 2015 Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis.

PMID 15872203 2005 Nephrogenic syndrome of inappropriate antidiuresis.

PMID 10477148 1999 Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus.

PMID 20459358 2010 Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus.