Variant: rs1060501410 

    present in Gene: LOC105379841;ENG
    present in Chromosome: 9
    Position on Chromosome: 127824800
    Alleles of this Variant: C/T

rs1060501410 in LOC105379841;ENG gene and Hereditary hemorrhagic telangiectasia PMID 15517393 2005 Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.

PMID 19767588 2009 Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation.

PMID 22991266 2012 Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations.

PMID 24196379 2014 Hereditary hemorrhagic telangiectasia in Japanese patients.

PMID 25970827 2016 Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.

PMID 16690726 2006 Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.