Phenotype: Cystic fibrosis


OMIM: 219700
Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease

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CFTR || c.1521_1523delCTT

Gene/Locus:    CFTR
Dna Change:    c.1521_1523delCTT
Protein Change:    p.Phe508del
Mutation Type:    Deletion
Mutation Effect:   
Location:    exon 11
Transcript:    NM_000492.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
MoroccoJewsNA70.6%NAQuint A et al., 2005Quint A, Lerer I, Sagi M, Abeliovich D, . Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.. Am. J. Med. Genet. A. 2005; 136(3):246-8
TunisiaJewsNA25.0%NAQuint A et al., 2005Quint A, Lerer I, Sagi M, Abeliovich D, . Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.. Am. J. Med. Genet. A. 2005; 136(3):246-8

CFTR || c.3846G>A

Gene/Locus:    CFTR
Dna Change:    c.3846G>A
Protein Change:    p.Trp1282X
Mutation Type:    Substitution
Mutation Effect:    Nonsense
Location:    exon 23
Transcript:    NM_000492.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TunisiaJewsNA8.3%NAQuint A et al., 2005Quint A, Lerer I, Sagi M, Abeliovich D, . Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.. Am. J. Med. Genet. A. 2005; 136(3):246-8

CFTR || c.1647T>G

Gene/Locus:    CFTR
Dna Change:    c.1647T>G
Protein Change:    p.Ser549Arg
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 12
Transcript:    NM_000492.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
MoroccoJewsNA11.8%NAQuint A et al., 2005Quint A, Lerer I, Sagi M, Abeliovich D, . Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.. Am. J. Med. Genet. A. 2005; 136(3):246-8

CFTR || c.3717+12191C>T (3849+10KBC>T)

Gene/Locus:    CFTR
Dna Change:    c.3717+12191C>T (3849+10KBC>T)
Protein Change:   
Mutation Type:    Substitution
Mutation Effect:    Splice site
Location:    intron 22
Transcript:    NM_000492.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
MoroccoJewsNA2.9%NAQuint A et al., 2005Quint A, Lerer I, Sagi M, Abeliovich D, . Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.. Am. J. Med. Genet. A. 2005; 136(3):246-8

References

Quint A, Lerer I, Sagi M, Abeliovich D, Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.Am. J. Med. Genet. A. 2005; 136(3):246-8