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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]

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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Last update

21/6/2017

Phenotype: Cystic fibrosis

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

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

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

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Morocco	Jews	NA	70.6%	NA	Quint 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
Tunisia	Jews	NA	25.0%	NA	Quint 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

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Tunisia	Jews	NA	8.3%	NA	Quint 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

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Morocco	Jews	NA	11.8%	NA	Quint 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

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Morocco	Jews	NA	2.9%	NA	Quint 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

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Cystic fibrosis

References