Variant: rs878853657 

    present in Gene: LOC105379841;ENG
    present in Chromosome: 9
    Position on Chromosome: 127826586
    Alleles of this Variant: C/G

rs878853657 in LOC105379841;ENG gene and Hereditary hemorrhagic telangiectasia PMID 10545596 1999 Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1.

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

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

PMID 25080347 2014 Investigation of endoglin wild-type and missense mutant protein heterodimerisation using fluorescence microscopy based IF, BiFC and FRET analyses.

PMID 20414677 2010 Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.

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

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

PMID 10749981 2000 Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms.

rs878853657 in LOC105379841;ENG gene and Telangiectasia, Hereditary Hemorrhagic, Type 1 PMID 10545596 1999 Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1.

PMID 15024723 2004 Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.

PMID 9157574 1997 A novel missense mutation in the endoglin gene in hereditary hemorrhagic telangiectasia.

PMID 7894484 1994 Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1.

PMID 16752392 2006 Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.

PMID 10625079 2000 Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin.

PMID 9245986 1997 Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia.

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

PMID 10982033 2000 Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect.

PMID 16525724 2006 Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia.

PMID 20414677 2010 Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.

PMID 15712270 2005 Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations.