MFMD

Search

Browse the database

By Disease
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]

By Gene
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

Gene: hexokinase 1; HK1

Gene Symbol: HK1
OMIM: 142600
Chromosome location: 10q22.1

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

Neuropathy, hereditary motor and sensory, Russe type || g.9712G>C

Phenotype:	Neuropathy, hereditary motor and sensory, Russe type
Dna Change:	g.9712G>C
Protein Change:
Mutation Type:	Substitution
Mutation Effect:
Location:
Transcript:	NM_033498

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	Gypsy	NA	8 patients/ 11 patients from 7 families	250 years ago	Sevilla T et al., 2013Sevilla T, Martínez-Rubio D, Márquez C, Paradas C, Colomer J, Jaijo T, Millán JM, Palau F, Espinós C, . Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.. Clin. Genet.. 2013; 83(6):565-70

References

Sevilla T, Martínez-Rubio D, Márquez C, Paradas C, Colomer J, Jaijo T, Millán JM, Palau F, Espinós C, Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.Clin. Genet.. 2013; 83(6):565-70

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: hexokinase 1; HK1

References