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Table 4 Classification of the genetic variants found among Ecuadorian children with CF

From: Clinical, genetic and microbiological characterization of pediatric patients with cystic fibrosis in a public Hospital in Ecuador

Genetic identification

Nucleotide identification

Protein identification (change)

dbSNP ID

Clinical Significance

Molecular consequence

Class of allele mutation

Clinical classification

CFTR 2 database patient reports

g.19395G > A

Not reported

Not reported

Not reported

Non classified

Non classified

Not reported

g.43555G > C

Not reported

Not reported

Not reported

Non classified

Non classified

Not reported

g.43575G > C

Not reported

Not reported

Not reported

Non classified

Non classified

Not reported

g.43580G > T

Not reported

Not reported

Not reported

Non classified

Non classified

Not reported

g.43583A > G

Not reported

Not reported

Not reported

Non classified

Non classified

Not reported

g.43592 T > C

c.164 + 12 T > C

rs121908790

Uncertain

Intron variant

Non classified

Non classified

Not reported

g.43594A > G

Not reported

Not reported

Not reported

Non classified

Non classified

Not reported

g.48340G > A

c.254G > A

p.Gly85Glu (G85E)

rs75961395

Pathogenic

Missense variant

Class II

A group

584

g.73512G > A

c.509G > A

p.Arg170His (R170H)

rs1800079

Pathogenic

Missense variant

Non classified

Non classified

11

g.70332G > T

c.489 + 1G > T

621 + 1G > T

rs78756941

Pathogenic

Splice donor variant

Class I

A group

1293

g.74534G > C

c.1624G > T

p.Gly542Ter (G542X)

rs113993959

Pathogenic

Nonsense variant

Class I

A group

3489

g.206154C > T

c.869 + 11C > T

rs1800503

Benign

Intron variant

Non classified

Non classified

Not reported

g.79435G > T

c.988G > T

p.Gly330Ter (G330*)

rs79031340

Pathogenic

Nonsense variant

Non classified

Non classified

23

g.98696A > G

c.1408=

p.Val470 = (M470V)

rs213950

Benign

Missense variant

Non classified

C group

209

g.98808_98811delTCT

c.1521_1523del

p.Phe508del (F508del)

rs113993960

Pathogenic

Inframe variant

Class II

A group

65,046

g.131210A > G

c.1826A > G

p.His609Arg (H609R)

rs397508310

Pathogenic

Missense variant

Non classified

Non classified

9

g.117592218_117592219dup

c.2052dupA

p.Gln685fs (Gln685Thrfs)

rs121908746

Pathogenic

frameshift variant

Non classified

Non classified

324

g.117592382del

c.2215del

p.Val739fs (2347delG)

rs397508353

Pathogenic

Frameshift variant

Non classified

Non classified

38

g.134218 T > G

c.2562 T > G

p.Thr854 = (T854T)

rs1042077

Benign

Synonymous variant

Non classified

Non classified

36

g.142999 G > A

c.2908G > A

p.Gly970Ser (G970S)

rs397508453

Uncertain

Missense variant

Non classified

Non classified

10

g.143018G > T

Not reported

Not reported

Not reported

Non classified

Non classified

Not reported

g.149918 T > A

Not reported

Not reported

Not reported

Non classified

Non classified

Not reported

g.74629 T > C

c.3294G > A

p.Trp1098Ter (W1098X)

rs397508533

Pathogenic

Nonsense variant

Non classified

Non classified

9

g.181807A > G

c.3870A > G

p.Pro1290 = (P1290P)

rs1800130

Benign

Synonymous variant

Non classified

Non classified

Not reported

g.192094C > G

c.3909C > G

p.Asn1303Lys (N1303K)

rs80034486

Pathogenic

Missense variant

Class II

A group

2147

g.204099A > C

Not reported

Not reported

Not reported

Non classified

Non classified

Not reported

g.129569G > A

c.1680-1G > A

1812-1G > A

rs121908794

Pathogenic

Splice acceptor variant

Non classified

Non classified

31

g.206271 G > A

c.4387C > T

p.Gln1463Ter (Q1463*)

rs886044425

Uncertain

Nonsense variant

Non classified

Non classified

Not reported

g.206359C > A

Not reported

Not reported

Not reported

Non classified

Non classified

Not reported