Gene: zinc finger protein 469; ZNF469


Gene Symbol: ZNF469
OMIM: 612078
Chromosome location: 16q24.2

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Brittle cornea syndrome || c.5943delA

Phenotype:    Brittle cornea syndrome
Dna Change:    c.5943delA
Protein Change:    p.G1983AfsX16
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    p.Gly1983AlafsX16
Transcript:    NM_001127464.1

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TunisiaJewsNA5 patients / 4 familiesNAAbu A et al., 2008Abu A, Frydman M, Marek D, Pras E, Nir U, Reznik-Wolf H, Pras E, . Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.. Am. J. Hum. Genet.. 2008; 82(5):1217-22

References

Abu A, Frydman M, Marek D, Pras E, Nir U, Reznik-Wolf H, Pras E, Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.Am. J. Hum. Genet.. 2008; 82(5):1217-22