Variant: rs1060501414 

    present in Gene: ENG;LOC105379841
    present in Chromosome: 9
    Position on Chromosome: 127825862
    Alleles of this Variant: T/C

rs1060501414 in ENG;LOC105379841 gene and Hereditary hemorrhagic telangiectasia PMID 8162075 1994 A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34.

PMID 20656886 2010 The physiological role of endoglin in the cardiovascular system.

PMID 22385575 2012 A novel ENG mutation causing impaired co-translational processing of endoglin associated with hereditary hemorrhagic telangiectasia.

PMID 15879500 2006 Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

PMID 21158752 2011 Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.

PMID 9554745 1998 Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.