alpha-Mannosidosis Mutation Database
A database on mutations, genotypes and the clinical and molecular aspects of alpha-Mannosidosis

Mutations

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ToggleEditMutation = 'c.747C>T'
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Mutation
2Benign Mutations, Animal Model

1 - 1 of 1

	PosAscending	Mutation	Protein	Primary	Exon/Intron	#Patients	#Alleles
	747	c.747C>T	p.= (silent)	Benign	Exon 5

1 - 1 of 1

c.747C>T, p.= (silent)

The sequence variant c.747C>T (dbSNP rs61737536) in exon 5 does not cause any amino acid substitution (silent) and is not predicted to interfere with the RNA-splicing process. It has a minor allele frequency of 0.04 and is considered a common, benign SNP.

Mutation Details

Mutation type

Benign

Localization

Exon 5

Number of Patients

References

Riise Stensland et al. 2012

Primary Mutation Type Distribution