rs138452567
This variant is located in the JAG1 gene.
▶ClinVar annotation
not specified; not provided; Isolated Nonsyndromic Congenital Heart Disease; Alagille syndrome due to a JAG1 point mutation; Cardiovascular phenotype; Deafness, congenital heart defects, and posterior embryotoxon;Tetralogy of Fallot;Charcot-Marie-Tooth disease, axonal, Type 2HH;Alagille syndrome due to a JAG1 point mutation
View on ClinVar →About JAG1
The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter is involved in signaling processes. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Nov 2019]
View all JAG1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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