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Last update

21/6/2017

Gene: eukaryotic translation initiation factor 2-alpha kinase 3; EIF2AK3

Gene Symbol: EIF2AK3
OMIM: 604032
Chromosome location: 2p11.2

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

Wolcott-Rallison syndrome || c.2704C>T

Phenotype:	Wolcott-Rallison syndrome
Dna Change:	c.2704C>T
Protein Change:	p.R902X
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 13
Transcript:

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Albania	NA	NA	1 patient	NA	Spehar Uroić A et al., 2014Spehar Uroić A, Mulliqi Kotori V, Rojnić Putarek N, Kušec V, Dumić M, . Primary hypothyroidism and nipple hypoplasia in a girl with Wolcott-Rallison syndrome.. Eur. J. Pediatr.. 2014; 173(4):529-31

References

Spehar Uroić A, Mulliqi Kotori V, Rojnić Putarek N, Kušec V, Dumić M, Primary hypothyroidism and nipple hypoplasia in a girl with Wolcott-Rallison syndrome.Eur. J. Pediatr.. 2014; 173(4):529-31

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: eukaryotic translation initiation factor 2-alpha kinase 3; EIF2AK3

References