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Last update

21/6/2017

Gene: CCHC-type zinc finger, nucleic acid binding protein; CNBP

Gene Symbol: CNBP
OMIM: 116955
Chromosome location: 3q21.3

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

Myotonic dystrophy 2 || c.-14-833_-11-830(75_11000) (CCTG(n))

Phenotype:	Myotonic dystrophy 2
Dna Change:	c.-14-833_-11-830(75_11000) (CCTG(n))
Protein Change:
Mutation Type:	Sequence repeat
Mutation Effect:
Location:	intron 1
Transcript:	NM_003418.4

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Morocco	NA	NA	1 family	NA	Coenen MJ et al., 2011Coenen MJ, Tieleman AA, Schijvenaars MM, Leferink M, Ranum LP, Scheffer H, van Engelen BG, . Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype.. Eur. J. Hum. Genet.. 2011; 19(5):567-70

References

Coenen MJ, Tieleman AA, Schijvenaars MM, Leferink M, Ranum LP, Scheffer H, van Engelen BG, Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype.Eur. J. Hum. Genet.. 2011; 19(5):567-70

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: CCHC-type zinc finger, nucleic acid binding protein; CNBP

References