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Last update

21/6/2017

Gene: zinc finger, FYVE domain containing 26; ZFYVE26

Gene Symbol: ZFYVE26
OMIM: 612012
Chromosome location: 14q24.1

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

Spastic paraplegia 15, autosomal recessive || c.1477C>T

Phenotype:	Spastic paraplegia 15, autosomal recessive
Dna Change:	c.1477C>T
Protein Change:	p.Gln493X
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 10
Transcript:	NM_015346.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Tunisia	NA	NA	2 families/4 families	NA	Boukhris A et al., 2009Boukhris A, Stevanin G, Feki I, Denora P, Elleuch N, Miladi MI, Goizet C, Truchetto J, Belal S, Brice A, Mhiri C, . Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity.. Clin. Genet.. 2009; 75(6):527-36

References

Boukhris A, Stevanin G, Feki I, Denora P, Elleuch N, Miladi MI, Goizet C, Truchetto J, Belal S, Brice A, Mhiri C, Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity.Clin. Genet.. 2009; 75(6):527-36

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: zinc finger, FYVE domain containing 26; ZFYVE26

References