ABCC7 p.Ile1203Val
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PMID: 1376017
[PubMed]
Cutting GR et al: "Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians."
No.
Sentence
Comment
88
A nucleotide substitution of A for G at position 3739 in exon 19, causing the amino acid substitution of isoleucine for valine at codon 1203 (I1203V), was found in one African-American patient.
X
ABCC7 p.Ile1203Val 1376017:88:105
status: NEWX
ABCC7 p.Ile1203Val 1376017:88:142
status: NEW92 Therefore, it is unclear whether I1203V is associated with disease or is merely an accumulated mutation in a nonfunctioning gene.
X
ABCC7 p.Ile1203Val 1376017:92:33
status: NEW126 The discovery ofa rare missense mutation (I1203V) on a CF chromosome bearing a nonsense mutation reveals a further complication of mutation analysis.
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ABCC7 p.Ile1203Val 1376017:126:42
status: NEW