ABCB4 p.Cys1073Tyr
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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.Cys1073Tyr 26473142:49:203
status: NEW92 The other mutation, c.3218G &#ff1e;A (p.C1073Y), is a novel variant not previously reported in the literature.
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ABCB4 p.Cys1073Tyr 26473142:92:40
status: NEW