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Last update

21/6/2017

Gene: cystatin B (stefin B); CSTB

Gene Symbol: CSTB
OMIM: 601145
Chromosome location: 21q22.3

Related informations: NCBI Gene Genome Browser UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD

Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) || c.-210CCCCGCCCCGCG(2_3)

Phenotype:	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)
Dna Change:	c.-210CCCCGCCCCGCG(2_3)
Protein Change:
Mutation Type:	Sequence repeat
Mutation Effect:
Location:	UTR 5-prime
Transcript:	NM_000100.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Algeria	NA	NA	43 families/47 North African families	NA	Moulard B et al., 2002Moulard B, Genton P, Grid D, Jeanpierre M, Ouazzani R, Mrabet A, Morris M, LeGuern E, Dravet C, Mauguière F, Utermann B, Baldy-Moulinier M, Belaidi H, Bertran F, Biraben A, Ali Chérif A, Chkili T, Crespel A, Darcel F, Dulac O, Geny C, Humbert-Claude V, Kassiotis P, Buresi C, Malafosse A, . Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.. Hum. Genet.. 2002; 111(3):255-62
Morocco	NA	NA	43 families/47 North African families	NA	Moulard B et al., 2002Moulard B, Genton P, Grid D, Jeanpierre M, Ouazzani R, Mrabet A, Morris M, LeGuern E, Dravet C, Mauguière F, Utermann B, Baldy-Moulinier M, Belaidi H, Bertran F, Biraben A, Ali Chérif A, Chkili T, Crespel A, Darcel F, Dulac O, Geny C, Humbert-Claude V, Kassiotis P, Buresi C, Malafosse A, . Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.. Hum. Genet.. 2002; 111(3):255-62
Tunisia	NA	NA	43 families/47 North African families	NA	Moulard B et al., 2002Moulard B, Genton P, Grid D, Jeanpierre M, Ouazzani R, Mrabet A, Morris M, LeGuern E, Dravet C, Mauguière F, Utermann B, Baldy-Moulinier M, Belaidi H, Bertran F, Biraben A, Ali Chérif A, Chkili T, Crespel A, Darcel F, Dulac O, Geny C, Humbert-Claude V, Kassiotis P, Buresi C, Malafosse A, . Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.. Hum. Genet.. 2002; 111(3):255-62

References

Moulard B, Genton P, Grid D, Jeanpierre M, Ouazzani R, Mrabet A, Morris M, LeGuern E, Dravet C, Mauguière F, Utermann B, Baldy-Moulinier M, Belaidi H, Bertran F, Biraben A, Ali Chérif A, Chkili T, Crespel A, Darcel F, Dulac O, Geny C, Humbert-Claude V, Kassiotis P, Buresi C, Malafosse A, Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.Hum. Genet.. 2002; 111(3):255-62

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: cystatin B (stefin B); CSTB

References