ABCB11 p.Ala277Glu
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PMID: 21766090
[PubMed]
Beausejour Y et al: "Description of two new ABCB11 mutations responsible for type 2 benign recurrent intrahepatic cholestasis in a French-Canadian family."
No.
Sentence
Comment
66
A splice mutation (390 G→T [G130G]) was found on one allele, while a missense sequence variant (830 C→A [A277E]) was found on the other allele.
X
ABCB11 p.Ala277Glu 21766090:66:119
status: NEW78 The mother was found to have the 390 G→T (G130G) mutation, while the father harboured the 830 C→A (A277E) mutation.
X
ABCB11 p.Ala277Glu 21766090:78:113
status: NEW65 A splice mutation (390 GT [G130G]) was found on one allele, while a missense sequence variant (830 CA [A277E]) was found on the other allele.
X
ABCB11 p.Ala277Glu 21766090:65:117
status: NEW77 The mother was found to have the 390 GT (G130G) mutation, while the father harboured the 830 CA (A277E) mutation.
X
ABCB11 p.Ala277Glu 21766090:77:111
status: NEW