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Under construction - original from the ISTH-SSC VWF Online Database
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Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE , Hum.Mut. 15:7-12); for a summary see Nomenclature.
Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Exon: Exon numbering DNA change: DNA change = description of variant at DNA level, based on a coding DNA reference sequence, following HGVS recommendations; e.g. c.123C>T Legacy numbering: Legacy numbering = variant as reported originally (e.g. 521delT); listed only when different from "Variant/DNA" RNA change: RNA change = description of variant at RNA level, following HGVS recommendations; e.g. r.123c>u, r.? = unknown, r.(?) = RNA not analysed but probably directly transcribed copy of DNA variant, r.spl? = RNA not analysed but variant probably affects splicing Protein change: Protein change = description of variant at protein level, following HGVS recommendations; e.g. p.(Arg345Pro) = (RNA not analysed, change predicted from DNA), p.Arg345Pro (protein change predicted from RNA), p.0 (no protein produced), p.? (unknown effect) VWF DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Variant remarks: Variant remarks Genetic_origin: origin of variant; unknown, germline (inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) when tested for functional consequences Segregation: indicates whether the variant segregates with the disease (yes), does not segregate with the disease (no) or segregation is unknown (?) Reference: Reference Template: Template Technique: Technique Frequency: Frequency Geographic origin: Geographic origin of patient Functional studies: Functional studies Ethnic origin: Ethnic origin of patient VWD type: VWD type dbSNP: dbSNP = ID variant in dbSNP