ABCC7 p.Leu1414Phe
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PMID: 26500004
[PubMed]
Pepermans X et al: "Identification and frequencies of cystic fibrosis mutations in central Argentina."
No.
Sentence
Comment
100
[1727G N C(;)2002C N T] G576A-R668C 1 (0.6) No Yes in trans non CF-causing in trans No p.Ser589Ile c.1766G N T S589I 1 (0.6) No Yes No No NA c.1766 + 1G N A 1898 + 1G N A 1 (0.6) Yes Yes CF-causing rs186089140 p.Ser737Phe c.2210C N T S737F 1 (0.6) No Yes No rs397508376 p.Leu812Phefs*11 c.2434_2435insT 2566insT 1 (0.6) No Yes No No p.Ser821Argfs*4 c.2462_2463delGT 2594delGT 1 (0.6) No Yes CF-causing No p.Tyr852Leufs*44 c.2554dupT c.2554dupT &#a7; 1 (0.6) No No No rs80224560 NA c.2657 + 5G N A 2789 + 5G N A 1 (0.6) No Yes CF-causing rs75096551 NA c.2988 + 1G N A 3120 + 1G N A 1 (0.6) Yes Yes CF-causing rs76151804 NA c.3140-26A N G 3272-26A N G 1 (0.6) No Yes CF-causing rs143570767 NA c.3873 + 1G N A 4005 + 1G N A 1 (0.6) No Yes CF-causing rs397508631 p.Ser1297Phefs*5 c.3884_3885insT 4016insT 1 (0.6) No Yes CF-causing No p.Leu1414Phe c.4242_4242 + 1delGGinsTT 4374_4374 + 1GG N TT 1 (0.6) No Yes No No NA c.1210-12T [5] TG11-5T 1 (0.6) Yes Yes Varying clinical consequence - p.= c.= WT 14 (8.4) NA NA NA HGVS (Human Genoma Variation Society) used for protein nomenclature [15,16].
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ABCC7 p.Leu1414Phe 26500004:100:832
status: NEW