Variant: rs1032920906 

    present in Gene: JAG1
    present in Chromosome: 20
    Position on Chromosome: 10672702
    Alleles of this Variant: G/C

rs1032920906 in JAG1 gene and Alagille Syndrome 1 PMID 15712272 2005 Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.

PMID 16575836 2006 Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate.

PMID 23801938 2013 Alagille Syndrome: A New Missense Mutation Detected by Whole-Exome Sequencing in a Case Previously Found to Be Negative by DHPLC and MLPA.

PMID 9585603 1998 Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.

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

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

PMID 11058898 2000 Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population.

PMID 20437614 2010 Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.

PMID 11180599 2001 Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients.

PMID 11157803 2001 Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome.

PMID 11139247 2001 Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome.

PMID 12497640 2003 Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome.

PMID 10533065 1999 Jagged-1 mutation analysis in Italian Alagille syndrome patients.

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