LOVD - Legend for CRYGD



Sequence variations are described basically as recommended by the Ad-Hoc Nomenclature Committee of the Human Genome Variation Society (HGVS). For the most recent recommendations see the HGVS "Nomenclature for the description of sequence variants" web page. The most recent publication on the subject is by den Dunnen JT & Antonarakis SE (2000), Hum.Mut. 15: 7-12.

Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.

NOTE: in all cases, unless indicated otherwise, all data of an entry are as reported by the author(s)/submitter.

Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown.

Exon: number of exon/intron containing variant; 02 = exon 2, 12i = intron 12, 01_08 = exons 1 to 8

DNA change: Variation at DNA level.

Var_pub_as: Var_pub_as = variant as described in publication (e.g. 521delT); listed only when different from "Variant/DNA"

RNA change: Effect of change on RNA.
  • = = RNA change identical to DNA change
  • ? = unknown
  • (=) = no significant effect expected (but no experimental proof)
  • (0) = change expected to abolish transcription
  • (ex4ex5del) = probably deletion of exons 4 to 5
  • (ex4ex5dup) = probably duplication of exons 4 to 5
  • +cry = activation of cryptic splice site (no sequence published)
  • spl? = effect on splicing very likely (no experimental proof), examples;
    • splice donor site change (nucleotides +1 to +5 affected)
    • splice acceptor site change (nucleotides -2 to -1 affected)
    • new intronic AG splice acceptor di-nucleotide created close to (within 15 nucleotides) of normal splice acceptor site
  • (spl?) = might affect splicing (no experimental proof), examples;
    • change affects first or last nucleotide of exon
    • change creates strong splice donor or splice acceptor site in exon


Protein: Protein change = description of variant at protein level, following HGVS recommendations; e.g. p.(Arg345Pro) = protein change predicted from DNA (RNA not analysed), p.Arg345Pro = protein change predicted from RNA

CRYGD DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.

Variant remarks: Variant remarks = remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, etc.

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
  • unknown
  • germline (inherited)
  • somatic
  • de novo
  • uniparental disomy
  • uniparental disomy, maternal allele
  • uniparental disomy, paternal allele
  • in vitro (cloned)

Reference: Reference = report describing variant, incl. links to OMIM and dbSNP (when available); format {PMID[1]:[2]} (where [1] = PubMedID, [2] = e.g. den Dunnen 2007) or "den Dunnen ASHG2003 P2346"

Detection/Template: Template = template(s) used to detect the sequence variant; DNA = genomic DNA, RNA = RNA (cDNA), RNA+DNA = select both DNA and RNA
  • DNA = DNA
  • RNA = RNA (cDNA)
  • protein = protein
  • ? = unknown

Detection/Technique: technique(s) used to identify the sequence variant; select multiple when more were used. For SEQ-NG indicate in the Remarks-column the number of reads showing the variant (e.g. 47/96 reads, 123/123 reads), select a second technique to indicate whether or not the variant was confirmed using another method (e.g. SEQ).
  • ? = 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
  • ddF = dideoxy Fingerprinting
  • DGGE = Denaturing-Gradient Gel-Electrophoresis
  • DHPLC = Denaturing High-Performance Liquid Chromatography
  • DOVAM = Detection Of Virtually All Mutations (SSCA variant)
  • DSCA = Double-Strand DNA Conformation Analysis
  • EMC = Enzymatic Mismatch Cleavage
  • HD = HeteroDuplex analysis
  • IHC = Immuno-Histo-Chemistry
  • MAPH = Multiplex Amplifiable Probe Hybridisation
  • MCA = high-resolution Melting Curve Analysis (hrMCA)
  • MLPA = Multiplex Ligation-dependent Probe Amplification
  • Northern = Northern blotting
  • PAGE = Poly-Acrylamide Gel-Electrophoresis
  • PCR = Polymerase Chain Reaction
  • PCRdig = PCR + restriction enzyme digestion
  • PCRlr = PCR, long-range
  • PCRm = PCR, multiplex
  • PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
  • PTT = Protein Truncation Test
  • RT-PCR = Reverse Transcription and PCR
  • SBE = Single Base Extension
  • SEQ = 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
  • Southern = Southern blotting
  • SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
  • SSCAf = fluorescent SSCA (SSCP)
  • TaqMan = TaqMan assay
  • Western = Western Blotting

Frequency: Frequency = frequency in which variant was found; 5/76 = in 5 of 760 chromosomes tested, 0.05 = in 5% of chromosomes tested (NOTE: prefered format is 5/76)

RE-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site.

Disease: Disease phenotype = phenotype patient(s), as reported in paper/by submitter, unless modified by the curator

Phenotype additional: Phenotype, additional features

Reference: Literature reference with possible link to publication in PubMed, dbSNP entry or other online resource. "Submitted:" indicates that the mutation was submitted directly to this database by the laboratory indicated.

Inheritance: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic)
  • unknown
  • isolated (sporadic)
  • familial
  • familial, autosomal dominant
  • familial, autosomal recessive
  • familial, X-linked dominant
  • familial, X-linked dominant, male sparing
  • familial, X-linked recessive
  • paternal, Y-linked
  • maternal, mitochondrial

Consanguinity: ndicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
  • ? = unknown
  • - = not applicable
  • no = non-consanguineous parents
  • yes = consanguineous parents

Families/Patients: number of familes (patients) = number independent families (number affected patients), like 1 (2) for 1 family with 2 patients

# Reported: Number of times this case has been reported

Geographic origin: Geographic origin of patient
  • ? (unknown)
  • - (not applicable)
  • Afghanistan
  • (Afghanistan)
  • Albania
  • (Albania)
  • Algeria
  • (Algeria)
  • American Samoa
  • (American Samoa)
  • Andorra
  • (Andorra)
  • Angola
  • (Angola)
  • Anguilla
  • (Anguilla)
  • Antarctica
  • (Antarctica)
  • Antigua and Barbuda
  • (Antigua and Barbuda)
  • Argentina
  • (Argentina)
  • Armenia
  • (Armenia)
  • Aruba
  • (Aruba)
  • Australia
  • (Australia)
  • Austria
  • (Austria)
  • Azerbaijan
  • (Azerbaijan)
  • Bahamas
  • (Bahamas)
  • Bahrain
  • (Bahrain)
  • Bangladesh
  • (Bangladesh)
  • Barbados
  • (Barbados)
  • Belarus
  • (Belarus)
  • Belgium
  • (Belgium)
  • Belize
  • (Belize)
  • Benin
  • (Benin)
  • Bermuda
  • (Bermuda)
  • Bhutan
  • (Bhutan)
  • Bolivia
  • (Bolivia)
  • Bosnia and Herzegovina
  • (Bosnia and Herzegovina)
  • Botswana
  • (Botswana)
  • Bouvet Island
  • (Bouvet Island)
  • Brazil
  • (Brazil)
  • British Indian Ocean Territory
  • (British Indian Ocean Territory)
  • Brunei Darussalam
  • (Brunei Darussalam)
  • Bulgaria
  • (Bulgaria)
  • Burkina Faso
  • (Burkina Faso)
  • Burundi
  • (Burundi)
  • Cambodia
  • (Cambodia)
  • Cameroon
  • (Cameroon)
  • Canada
  • (Canada)
  • Cape Verde
  • (Cape Verde)
  • Cayman Islands
  • (Cayman Islands)
  • Central African Republic
  • (Central African Republic)
  • Chad
  • (Chad)
  • Chile
  • (Chile)
  • China
  • (China)
  • Christmas Island
  • (Christmas Island)
  • Cocos (Keeling Islands)
  • (Cocos (Keeling Islands))
  • Colombia
  • (Colombia)
  • Comoros
  • (Comoros)
  • Congo
  • (Congo)
  • Cook Islands
  • (Cook Islands)
  • Costa Rica
  • (Costa Rica)
  • Cote D'Ivoire (Ivory Coast)
  • (Cote D'Ivoire (Ivory Coast))
  • Croatia (Hrvatska)
  • (Croatia (Hrvatska))
  • Cuba
  • (Cuba)
  • Cyprus
  • (Cyprus)
  • Czech Republic
  • (Czech Republic)
  • Denmark
  • (Denmark)
  • Djibouti
  • (Djibouti)
  • Dominica
  • (Dominica)
  • Dominican Republic
  • (Dominican Republic)
  • East Timor
  • (East Timor)
  • Ecuador
  • (Ecuador)
  • Egypt
  • (Egypt)
  • El Salvador
  • (El Salvador)
  • Equatorial Guinea
  • (Equatorial Guinea)
  • Eritrea
  • (Eritrea)
  • Estonia
  • (Estonia)
  • Ethiopia
  • (Ethiopia)
  • Falkland Islands (Malvinas)
  • (Falkland Islands (Malvinas))
  • Faroe Islands
  • (Faroe Islands)
  • Fiji
  • (Fiji)
  • Finland
  • (Finland)
  • France
  • (France)
  • Gabon
  • (Gabon)
  • Gambia
  • (Gambia)
  • Georgia
  • (Georgia)
  • Germany
  • (Germany)
  • Ghana
  • (Ghana)
  • Gibraltar
  • (Gibraltar)
  • Greece
  • (Greece)
  • Greenland
  • (Greenland)
  • Grenada
  • (Grenada)
  • Guadeloupe
  • (Guadeloupe)
  • Guam
  • (Guam)
  • Guatemala
  • (Guatemala)
  • Guiana, French
  • (Guiana, French)
  • Guinea
  • (Guinea)
  • Guinea-Bissau
  • (Guinea-Bissau)
  • Guyana
  • (Guyana)
  • Haiti
  • (Haiti)
  • Heard and McDonald Islands
  • (Heard and McDonald Islands)
  • Honduras
  • (Honduras)
  • Hong Kong
  • (Hong Kong)
  • Hungary
  • (Hungary)
  • Iceland
  • (Iceland)
  • India
  • (India)
  • Indonesia
  • (Indonesia)
  • Iran
  • (Iran)
  • Iraq
  • (Iraq)
  • Ireland
  • (Ireland)
  • Israel
  • (Israel)
  • Italy
  • (Italy)
  • Jamaica
  • (Jamaica)
  • Japan
  • (Japan)
  • Jordan
  • (Jordan)
  • Kazakhstan
  • (Kazakhstan)
  • Kenya
  • (Kenya)
  • Kiribati
  • (Kiribati)
  • Korea, North (People's Republic)
  • (Korea, North (People's Republic))
  • Korea, South (Republic)
  • (Korea, South (Republic))
  • Kuwait
  • (Kuwait)
  • Kyrgyzstan (Kyrgyz Republic)
  • (Kyrgyzstan (Kyrgyz Republic))
  • Laos
  • (Laos)
  • Latvia
  • (Latvia)
  • Lebanon
  • (Lebanon)
  • Lesotho
  • (Lesotho)
  • Liberia
  • (Liberia)
  • Libya
  • (Libya)
  • Liechtenstein
  • (Liechtenstein)
  • Lithuania
  • (Lithuania)
  • Luxembourg
  • (Luxembourg)
  • Macau
  • (Macau)
  • Macedonia
  • (Macedonia)
  • Madagascar
  • (Madagascar)
  • Malawi
  • (Malawi)
  • Malaysia
  • (Malaysia)
  • Maldives
  • (Maldives)
  • Mali
  • (Mali)
  • Malta
  • (Malta)
  • Marshall Islands
  • (Marshall Islands)
  • Martinique
  • (Martinique)
  • Mauritania
  • (Mauritania)
  • Mauritius
  • (Mauritius)
  • Mayotte
  • (Mayotte)
  • Mexico
  • (Mexico)
  • Micronesia
  • (Micronesia)
  • Moldova
  • (Moldova)
  • Monaco
  • (Monaco)
  • Mongolia
  • (Mongolia)
  • Montserrat
  • (Montserrat)
  • Morocco
  • (Morocco)
  • Mozambique
  • (Mozambique)
  • Myanmar
  • (Myanmar)
  • Namibia
  • (Namibia)
  • Nauru
  • (Nauru)
  • Nepal
  • (Nepal)
  • Netherlands
  • Netherlands Antilles
  • (Netherlands Antilles)
  • (Netherlands)
  • Neutral Zone (Saudia Arabia/Iraq)
  • (Neutral Zone (Saudia Arabia/Iraq))
  • New Caledonia
  • (New Caledonia)
  • New Zealand
  • (New Zealand)
  • Nicaragua
  • (Nicaragua)
  • Niger
  • (Niger)
  • Nigeria
  • (Nigeria)
  • Niue
  • (Niue)
  • Norfolk Island
  • (Norfolk Island)
  • Northern Mariana Islands
  • (Northern Mariana Islands)
  • Norway
  • (Norway)
  • Oman
  • (Oman)
  • Pakistan
  • (Pakistan)
  • Palau
  • (Palau)
  • Palestine
  • (Palestine)
  • Panama
  • (Panama)
  • Papua New Guinea
  • (Papua New Guinea)
  • Paraguay
  • (Paraguay)
  • Peru
  • (Peru)
  • Philippines
  • (Philippines)
  • Pitcairn
  • (Pitcairn)
  • Poland
  • (Poland)
  • Polynesia, French
  • (Polynesia, French)
  • Portugal
  • (Portugal)
  • Puerto Rico
  • (Puerto Rico)
  • Qatar
  • (Qatar)
  • Reunion
  • (Reunion)
  • Romania
  • (Romania)
  • Russian Federation
  • (Russian Federation)
  • Rwanda
  • (Rwanda)
  • S. Georgia and S. Sandwich Isls.
  • (S. Georgia and S. Sandwich Isls.)
  • Saint Kitts and Nevis
  • (Saint Kitts and Nevis)
  • Saint Lucia
  • (Saint Lucia)
  • Saint Vincent and The Grenadines
  • (Saint Vincent and The Grenadines)
  • Samoa
  • (Samoa)
  • San Marino
  • (San Marino)
  • Sao Tome and Principe
  • (Sao Tome and Principe)
  • Saudi Arabia
  • (Saudi Arabia)
  • Senegal
  • (Senegal)
  • Seychelles
  • (Seychelles)
  • Sierra Leone
  • (Sierra Leone)
  • Singapore
  • (Singapore)
  • Slovakia (Slovak Republic)
  • (Slovakia (Slovak Republic))
  • Slovenia
  • (Slovenia)
  • Solomon Islands
  • (Solomon Islands)
  • Somalia
  • (Somalia)
  • South Africa
  • (South Africa)
  • Southern Territories, French
  • (Southern Territories, French)
  • Soviet Union (former)
  • (Soviet Union (former))
  • Spain
  • (Spain)
  • Sri Lanka
  • (Sri Lanka)
  • St. Helena
  • (St. Helena)
  • St. Pierre and Miquelon
  • (St. Pierre and Miquelon)
  • Sudan
  • (Sudan)
  • Suriname
  • (Suriname)
  • Svalbard and Jan Mayen Islands
  • (Svalbard and Jan Mayen Islands)
  • Swaziland
  • (Swaziland)
  • Sweden
  • (Sweden)
  • Switzerland
  • (Switzerland)
  • Syria
  • (Syria)
  • Taiwan
  • (Taiwan)
  • Tajikistan
  • (Tajikistan)
  • Tanzania
  • (Tanzania)
  • Thailand
  • (Thailand)
  • Togo
  • (Togo)
  • Tokelau
  • (Tokelau)
  • Tonga
  • (Tonga)
  • Trinidad and Tobago
  • (Trinidad and Tobago)
  • Tunisia
  • (Tunisia)
  • Turkey
  • (Turkey)
  • Turkmenistan
  • (Turkmenistan)
  • Turks and Caicos Islands
  • (Turks and Caicos Islands)
  • Tuvalu
  • (Tuvalu)
  • Uganda
  • (Uganda)
  • Ukraine
  • (Ukraine)
  • United Arab Emirates
  • (United Arab Emirates)
  • United Kingdom (Great Britain)
  • (United Kingdom (Great Britain))
  • United States
  • (United States)
  • Uruguay
  • (Uruguay)
  • US Minor Outlying Islands
  • (US Minor Outlying Islands)
  • Uzbekistan
  • (Uzbekistan)
  • Vanuatu
  • (Vanuatu)
  • Vatican City State (Holy See)
  • (Vatican City State (Holy See))
  • Venezuela
  • (Venezuela)
  • Viet Nam
  • (Viet Nam)
  • Virgin Islands (British)
  • (Virgin Islands (British))
  • Virgin Islands (US)
  • (Virgin Islands (US))
  • Wallis and Futuna Islands
  • (Wallis and Futuna Islands)
  • Western Sahara
  • (Western Sahara)
  • Yemen
  • (Yemen)
  • Yugoslavia
  • (Yugoslavia)
  • Zaire
  • (Zaire)
  • Zambia
  • (Zambia)
  • Zimbabwe
  • (Zimbabwe)

Ethnic origin: Ethnic origin = ethnic patient origin of patient, FR = France, (FR) = not known, reported by French laboratory

Gender: individual's gender; ? = unknown, - = not applicable, F = female, M = male, rF = raised as female, rM = raised as male
  • ? = unknown
  • - = not applicable
  • F = female
  • M = male
  • rF = raised as female
  • rM = raised as male

Age_onset: age at onset first disease symptoms; 20y (ate age 20 years), 13m (13 months), 7d (7 days)

Phenotype_onset: Phenotype_onset