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detailed information on Alagille Syndrome.
This resource features comprehensive data on JAG1 and NOTCH2 variants, including, mutation types, clinical
significance, organ involvement, population-specific data and more.
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Variant / Coordinates / Accession / PMID
| Nucleotide variant : | c.59T>Gc.59T>G |
| protein variant : | p.(Leu20Arg)p.(Leu20Arg) |
| genomic coordinates : | g.10673472A>Cg.10673467A>G |
| protein domain : | SP MNNLDSL |
| organs affected : | liver |
| population : | Asian Italian |
| clinvar accession : | VCV000337761 |
| Type of mutation : | MissenseFrameshift |