Variant: rs137852217 

    present in Gene: AMER1
    present in Chromosome: X
    Position on Chromosome: 64192215
    Alleles of this Variant: G/A;T

rs137852217 in AMER1 gene and Dysmorphic features PMID 19079258 2009 Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.

PMID 20679664 2010 WTX mutations can occur both early and late in the pathogenesis of Wilms tumour.

PMID 20209645 2010 Osteopathia striata with cranial sclerosis owing to WTX gene defect.

PMID 20950377 2011 Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis.

PMID 7004677 1980 Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases.

PMID 22043478 2011 The male phenotype in osteopathia striata congenita with cranial sclerosis.

PMID 28497491 2017 Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.

PMID 8723089 1996 Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigree.

rs137852217 in AMER1 gene and Multiple congenital anomalies PMID 22043478 2011 The male phenotype in osteopathia striata congenita with cranial sclerosis.

PMID 20209645 2010 Osteopathia striata with cranial sclerosis owing to WTX gene defect.

PMID 7004677 1980 Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases.

PMID 19079258 2009 Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.

PMID 20679664 2010 WTX mutations can occur both early and late in the pathogenesis of Wilms tumour.

PMID 28497491 2017 Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.

PMID 20950377 2011 Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis.

PMID 8723089 1996 Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigree.

rs137852217 in AMER1 gene and Muscle hypotonia PMID 28497491 2017 Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.

PMID 20209645 2010 Osteopathia striata with cranial sclerosis owing to WTX gene defect.

PMID 20950377 2011 Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis.

PMID 22043478 2011 The male phenotype in osteopathia striata congenita with cranial sclerosis.

PMID 20679664 2010 WTX mutations can occur both early and late in the pathogenesis of Wilms tumour.

PMID 19079258 2009 Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.

PMID 7004677 1980 Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases.

PMID 8723089 1996 Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigree.