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Popular pages
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Human Genome Variation Society
The Society aims to foster discovery and characterization of genomic variations including population distribution and phenotypic associations. Promote collection, documentation and free distribution o...
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HGVS recommendations: AA examples
Legend: Reference sequence of imaginary gene used for the exaples given on this page. Nucleotide +1 in the coding DNA reference sequence is the A of the ATG translation initiation c...
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HGVS recommendations: standards
: (colon) = separates the description of a reference sequence and the actual description of a variant e.g. M13855.3:c.1A>G c.[76A>C; 83G>C] two changes in one allele ...
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HGVS recommendations: general, DNA level
Insertions are designated by "ins" after an indication of the nucleotides flanking the insertion site, followed by a description of the nucleotides inserted. Duplicating insertions should...
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Nomenclature for the description of sequence variants: Quick
reference
Quick reference - simple examples description of sequence changes Last modified August, 2015 NOTE: this website is frozen since May 1, 2016. It has been re...
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HGVS recommendations: nomenclature for the description of sequence
variants
Introduction Discussions regarding the uniform and unequivocal description of sequence variants in DNA and protein sequences (mutations, polymorphisms) were initiated by two papers publish...