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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: glycyl-tRNA synthetase; GARS

Gene Symbol: GARS
OMIM: 600287
Chromosome location: 7p14.3

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

Neuropathy, distal hereditary motor, type VA || c.1738G>C

Phenotype:	Neuropathy, distal hereditary motor, type VA
Dna Change:	c.1738G>C
Protein Change:	p.Gly580Arg
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 14
Transcript:	NM_002047.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Algeria	Jews	NA	16 patients/3 families	NA	Dubourg O et al., 2006Dubourg O, Azzedine H, Yaou RB, Pouget J, Barois A, Meininger V, Bouteiller D, Ruberg M, Brice A, LeGuern E, . The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.. Neurology. 2006; 66(11):1721-6

References

Dubourg O, Azzedine H, Yaou RB, Pouget J, Barois A, Meininger V, Bouteiller D, Ruberg M, Brice A, LeGuern E, The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.Neurology. 2006; 66(11):1721-6

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: glycyl-tRNA synthetase; GARS

References