Fabry:Mapping point mutations

Fabry Disease » Mapping point mutations

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The following analyses were performed on the basis of the α-Galactosidase A sequence. Please consult the journal for the commands used to generate the results.

HGMD

Mutation types:

• Missense/nonsense
• Splicing
• Regulatory
• Small deletions
• Small insertions
• Small indels
• Gross deletions
• Gross insertions
• Complex
• Repeats

Missense/nonsense mutations

dbSNP

At the time we checked [Function_Class+AND+GLA[GENE]+AND+%22human%22[ORGN]+AND+%22snp%22[SNP_CLASS]+&SITE=NcbiHome&submit=Go dbSNP], it listed eight silent single point mutations.