Copyright: © 2017 by the authors. Licensee: Pirogov University.
This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (CC BY).

ORIGINAL RESEARCH

Clarification of the status of some mutations considered pathogenic, by harmless mutations attributes

About authors

1 Bioinformatics Data Processing Department,
Genotek Ltd., Moscow, Russia

2 Lomonosov Moscow State University, Moscow, Russia

3 The Core Facilities Center “Genetic Polymorphism”,
Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia

Correspondence should be addressed: Dmitry O. Korostin
ul. Gubkina, d. 3, Moscow, Russia, 119991; moc.liamg@nitsorok.d

Received: 2016-02-10 Accepted: 2016-02-19 Published online: 2017-01-05
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Number of the most important mutations obtained from HGMD and predicted by snpEff
*Names are given as they appear in snpEff. missense_variant – missense mutations; stop_gained – nonsense mutations; synonymous_variant - synonymous mutations; start_lost – a codon variant that changes at least one base of the canonical start codon; 3_prime_UTR_variant – a UTR variant of the 3’ UTR; downstream_gene_variant – a sequence variant located 3’ of a gene. upstream_gene_variant - a sequence variant located 5’ of a gene; stop_lost – a sequence variant where at least one base of the terminator codon (stop) is changed resulting in an elongated transcript; splice_region_variant – a sequence variant in which a change has occurred within the region; of the splice site, either within 1-3 bases of the exon or 3-8 bases of the intron; sequence_feature – a sequence variant within any region initiator_codon_variant – a codon variant that changes at least one base of the first codon of a transcript; intron_variant – a transcript variant occurring within an intron non_coding_exon_variant – a sequence variant that changes non-coding exon sequence of a noncoding transcript; splice_donor_variant – a splice variant that changes the 2 base pair region at the 5’ end of an intron; splice_acceptor_variant - a splice variant that changes the 2 base region at the 3’ end of an intron; stop_retained_variant – a sequence variant where at least one base in the terminator codon is changed, but the terminator remains; 5_prime_UTR_variant - a UTR variant of the 5’ UTR; intergenic_region – a region containing or overlapping no genes that is bounded on either side by a gene, or bounded by a gene and the end of the chromosome.