ABCC7 p.Ser1456Asn
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PMID: 23276700
[PubMed]
Krenkova P et al: "Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations."
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51
In addition, 20 novel mutations (Table 1) and a novel variant (S1456N) were discovered.
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ABCC7 p.Ser1456Asn 23276700:51:63
status: NEW57 Interestingly, the patient's asymptomatic father bears mutation S1455X in trans to a novel variant S1456N and the patient's apparently healthy brother has the maternal-F508del/S1456N genotype.
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ABCC7 p.Ser1456Asn 23276700:57:99
status: NEWX
ABCC7 p.Ser1456Asn 23276700:57:176
status: NEW