Variant: rs727504412 

    present in Gene: JAG1
    present in Chromosome: 20
    Position on Chromosome: 10645245
    Alleles of this Variant: ACTG/-

rs727504412 in JAG1 gene and Alagille Syndrome PMID 10220506 1999 Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome.

PMID 15712272 2005 Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.

PMID 12442286 2002 DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients.

PMID 9207788 1997 Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.

rs727504412 in JAG1 gene and Alagille Syndrome 1 PMID 9207788 1997 Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.

PMID 15712272 2005 Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.

PMID 12442286 2002 DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients.

PMID 22488849 2012 Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features.

PMID 25676721 2015 Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome.

rs727504412 in JAG1 gene and Congenital Heart Defects PMID 9207788 1997 Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.

PMID 10220506 1999 Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome.

PMID 15712272 2005 Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.

PMID 12442286 2002 DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients.