ABCB4 p.Tyr328*
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PMID: 26473142
[PubMed]
Boga S et al: "Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment."
No.
Sentence
Comment
49
The patient was found to have compound heterozygosity for novel mutations in the ABCB4 gene and had inherited one mutation from each parent (father: c.984T&#ff1e;G [p.Y328*], mother: c.3218G &#ff1e;A [p.C1073Y]), consistent with a diagnosis of PFIC3.
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ABCB4 p.Tyr328* 26473142:49:167
status: NEW90 One of the mutations, c.984T &#ff1e;G (p.Y328*), has not been previously reported in the literature.
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ABCB4 p.Tyr328* 26473142:90:41
status: NEW91 This is predicted to be a nonsense mutation that results in a premature stop codon (p.Y328*) and thus is categorized as a deleterious mutation.
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ABCB4 p.Tyr328* 26473142:91:86
status: NEW