Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Effect: The variant's effect on the protein's function, in the format 'R/C' where R is the value reported by the source and C is the value concluded by the curator; '+' indicating the variant affects function, '+?' probably affects function, '+*' affects function, not associated with individual's disease phenotype, '#' affects function, not associated with any known disease phenotype, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect not classified.

Название по кДНК: Номенклатура HGVS по консенсусной последовательности RefSeq NM_000492.3: c.123C>T, c.123_145del, c.123_126dup.

Регион: Положение мутации в функуциональной области гена
All options:

• 5'НТО
• Экзон
• Интрон
• 3'НТО
• Промотер
• Энхансер
• Сайленсер

Название по белку: Номенклатура HGVS по консенсусной последовательности RefSeq NP_000483.3: p.Arg345Pro

Экзон/Интрон: Номер экзона/интрона, на который приходится вариант

Частота РФ (2014): Частота по данным Российского регистра больных МВ, в %

Частота РФ (2013): Частота по данным Российского регистра больных МВ, в %

Комментарии: Текст длиной до 400 символов

Название по РНК: Description of variant at RNA level (following HGVS recommendations).

• r.123c>u
• r.? = unknown
• r.(?) = RNA not analysed but probably transcribed copy of DNA variant
• r.spl? = RNA not analysed but variant probably affects splicing
• r.(spl?) = RNA not analysed but variant may affect splicing
• r.0? = change expected to abolish transcription

Фармакогеномика: Наличие специфических фармацевтических препаратов
All options:

• Ivacaftor (Kalydeco)
• Lumacaftor/Ivacaftor (Orkambi)

CFTR2: Ссылка на описание варианта в базе данных CFTR2

Частота РФ (2015): Частота по данным Российского регистра больных МВ, в %

Частота РФ (2016): Частота по данным Российского регистра больных МВ, в %

Контрольные материалы: Доступность биоматериалов и контрольных данных по варианту в биобанках
All options:

• Parseq Lab (www.parseq.ru); ДНК; MPS
• Parseq Lab (www.parseq.ru); ДНК; MPS; данные Сангера
• Parseq Lab (www.parseq.ru); ДНК; MPS; MLPA

Allele: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.

Название: Тривиальное название, используемое клиницистами

Патогенность: Клиническая значимость, присвоенная куратором
All options:

• Патогенный
• Вероятно патогенный
• Неопределенного значения
• Вероятно доброкачественный
• Доброкачественный

Класс: Класс мутации в соответствии с классификацией мутаций по эффекуту, оказываемому на белок МВТР
All options:

• I
• II
• III
• IV
• V
• VI

Геномные координаты (hg19): Номенклатура HGVS по консенсусной последовательности RefSeq NC_000007.13

dbSNP: Ссылка на базу данных dbSNP

CFTR1: Ссылка на описание варианта в базе данных CFTR1

Тип: Классификация мутаций по изменениям на уровне ДНК
All options:

• SNP
• DEL
• INS
• DUP
• INDEL
• CNV
• SV

Ссылки: Ссылки на публикации, в которых упоминается вариант

Template: Template(s) used to detect the sequence variant; DNA = genomic DNA, RNA = RNA (cDNA).
All options:

• DNA
• RNA = RNA (cDNA)
• Protein
• ? = unknown

Technique: Technique(s) used to identify the sequence variant.
All options:

• ? = Unknown
• arrayCGH = array for Comparative Genomic Hybridisation
• arraySEQ = array for resequencing
• arraySNP = array for SNP typing
• arrayCNV = array for Copy Number Variation (SNP and CNV probes)
• BESS = Base Excision Sequence Scanning
• CMC = Chemical Mismatch Cleavage
• CSCE = Conformation Sensitive Capillary Electrophoresis
• DGGE = Denaturing-Gradient Gel-Electrophoresis
• DHPLC = Denaturing High-Performance Liquid Chromatography
• DOVAM = Detection Of Virtually All Mutations (SSCA variant)
• ddF = dideoxy Fingerprinting
• DSCA = Double-Strand DNA Conformation Analysis
• EMC = Enzymatic Mismatch Cleavage
• HD = HeteroDuplex analysis
• MCA = high-resolution Melting Curve Analysis (hrMCA)
• IHC = Immuno-Histo-Chemistry
• MAPH = Multiplex Amplifiable Probe Hybridisation
• MLPA = Multiplex Ligation-dependent Probe Amplification
• SEQ-NG = Next-Generation Sequencing
• SEQ-NG-H = Next-Generation Sequencing - Helicos
• SEQ-NG-I = Next-Generation Sequencing - Illumina/Solexa
• SEQ-NG-R = Next-Generation Sequencing - Roche/454
• SEQ-NG-S = Next-Generation Sequencing - SOLiD
• Northern = Northern blotting
• PCR = Polymerase Chain Reaction
• PCRdig = PCR + restriction enzyme digestion
• PCRlr = PCR, long-range
• PCRm = PCR, multiplex
• PCRq = PCR, quantitative
• PAGE = Poly-Acrylamide Gel-Electrophoresis
• PTT = Protein Truncation Test
• PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
• RT-PCR = Reverse Transcription and PCR
• SEQ = SEQuencing
• SBE = Single Base Extension
• SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
• SSCAf = SSCA, fluorescent (SSCP)
• Southern = Southern blotting
• TaqMan = TaqMan assay
• Western = Western Blotting

Reference: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.

Gender: The gender of the reported individual.
All options:

• ? = Unknown
• F = Female
• M = Male
• rF = Raised as female
• rM = Raised as male

Population: Additional information on the individual's population.

Consanguinity: Indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

• ? = Unknown
• no = Non-consanguineous parents
• yes = Consanguineous parents

NGS panel: NGS panel

Run: Sequencing run ID

Sanger sequencing data availability: Sanger sequencing data availability
All options:

• Whole NGS panel
• Pathogenic variants
• Not available