### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CIB1) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "CIB1" "calcium and integrin binding 1 (calmyrin)" "15" "q25.3-q26" "unknown" "NC_000015.9" "UD_132378468267" "" "https://www.LOVD.nl/CIB1" "" "1" "16920" "10519" "602293" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/CIB1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-09-16 21:34:08" "00000" "2023-11-27 17:35:39" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00005181" "CIB1" "calcium and integrin binding 1 (calmyrin)" "001" "NM_006384.3" "" "NP_006375.2" "" "" "" "-162" "815" "576" "90777279" "90773477" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01772" "EV" "epidermodysplasia verruciformis, susceptibiity to (EV)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-09-16 16:48:32" "05655" "EV3" "epidermodysplasia verruciformis, susceptibiity to 3 (EV-3)" "AR" "618267" "" "" "autosomal recessive" "00006" "2019-09-16 21:33:52" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CIB1" "01772" "CIB1" "05655" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00264019" "" "" "" "4" "" "02484" "{PMID:de Jong 2018:30068544}" "2-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Colombia" "" "0" "" "" "" "FamA2" "00264020" "" "" "" "7" "" "02484" "{PMID:de Jong 2018:30068544}" "9-generation family, 7 affected (3F, 4M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Colombia" "47y" "0" "" "" "" "FamA1" "00264021" "" "" "" "5" "" "02484" "{PMID:de Jong 2018:30068544}" "6-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Iran" "42y" "0" "" "" "Unknown" "FamF" "00264022" "" "" "" "4" "" "02484" "{PMID:de Jong 2018:30068544}" "5-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Togo" "14y" "0" "" "" "Unknown" "FamEPatIV10" "00264023" "" "" "" "1" "" "02484" "{PMID:de Jong 2018:30068544}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "France" "72y" "0" "" "" "Unknown" "FamB" "00265232" "" "" "" "2" "" "00006" "{PMID:de Jong 2018:30068544}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "Switzerland" "" "0" "" "" "" "FamC" "00265233" "" "" "" "1" "" "00006" "{PMID:de Jong 2018:30068544}" "5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Switzerland" "" "0" "" "" "" "FamD" "00265234" "" "" "" "3" "" "02484" "{PMID:Vahidnezhad 2019:30503243}" "2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Iran" "" "0" "" "" "Persian" "FamPatIV2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00264019" "01772" "00264020" "01772" "00264021" "01772" "00264022" "01772" "00264023" "01772" "00265232" "01772" "00265233" "01772" "00265234" "01772" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01772, 05655 ## Count = 7 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000201875" "01772" "00264020" "02484" "Familial, autosomal recessive" "" "Brownish macules, flat warts, erythematous squamous and pigmented lesions,eruptions of pityriasis versicolor–like and scaly erythematous lesions. SCC, Bowenoid" "" "" "" "" "" "" "" "Epidermodysplasia verruciformis" "" "0000201876" "01772" "00264021" "02484" "Familial, autosomal recessive" "" "Numerous, occasionally confluent flatwarts, palmar hyperkeratosis,multiple ulcerated papules and nodules. Hyperpigmented plaques with verrucous surface and ulcerations and scaling with raised pearly borders. BCC, SCC which have metastasizedvto the bones of the lower extremities,necessitating amputation." "" "" "" "" "" "" "" "Epidermodysplasia verruciformis" "" "0000201878" "01772" "00264022" "02484" "Familial, autosomal recessive" "" "Papules. SCC." "" "" "" "" "" "" "" "Epidermodysplasia verruciformis" "" "0000201879" "01772" "00264023" "02484" "Familial, autosomal recessive" "" "Polymorphic skin lesions. SCC" "" "" "" "" "" "" "" "Epidermodysplasia verruciformis" "" "0000203055" "01772" "00265232" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "0000203056" "01772" "00265233" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "0000203057" "01772" "00265234" "02484" "Familial, autosomal recessive" "42y" "see paper; ..." "" "" "" "" "" "" "" "EV-3" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000265130" "00264020" "1" "02484" "02484" "2019-09-05 17:26:28" "00006" "2019-09-16 21:47:37" "PCR;SEQ" "DNA" "" "" "0000265132" "00264021" "1" "02484" "02484" "2019-09-05 17:41:22" "" "" "PCR" "DNA" "" "" "0000265144" "00264022" "1" "02484" "02484" "2019-09-05 21:47:30" "" "" "PCR" "DNA" "" "" "0000265145" "00264023" "1" "02484" "02484" "2019-09-05 21:51:31" "" "" "PCR" "DNA" "" "" "0000266353" "00264019" "1" "02484" "00006" "2019-09-16 21:51:44" "" "" "SEQ" "DNA" "" "" "0000266354" "00265232" "1" "00006" "00006" "2019-09-16 21:59:45" "" "" "SEQ" "DNA" "" "" "0000266355" "00265233" "1" "00006" "00006" "2019-09-16 22:03:09" "" "" "SEQ" "DNA" "" "" "0000266356" "00265234" "1" "02484" "00006" "2019-09-16 22:13:46" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000265130" "CIB1" "0000265132" "CIB1" "0000265144" "CIB1" "0000265145" "CIB1" "0000266353" "CIB1" "0000266354" "CIB1" "0000266355" "CIB1" "0000266356" "CIB1" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 15 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000349070" "0" "50" "15" "90768918" "90768918" "subst" "0" "02327" "SEMA4B_000001" "g.90768918C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90225686C>T" "" "VUS" "" "0000595709" "3" "90" "15" "90774326" "90774326" "dup" "0" "02484" "CIB1_000004" "g.90774326dup" "" "{PMID:de Jong 2018:30068544}" "" "465_465+1insG" "" "Germline" "yes" "" "0" "" "" "g.90231094dup" "" "pathogenic (recessive)" "" "0000595710" "3" "90" "15" "90776937" "90776937" "subst" "0" "02484" "CIB1_000003" "g.90776937T>C" "" "{PMID:de Jong 2018:30068544}" "" "" "" "Germline" "yes" "" "0" "" "" "g.90233705T>C" "" "pathogenic (recessive)" "" "0000595720" "3" "90" "15" "90774721" "90774721" "subst" "1.21971E-5" "02484" "CIB1_000002" "g.90774721G>A" "" "{PMID:de Jong 2018:30068544}" "" "" "" "Germline" "yes" "" "0" "" "" "g.90231489G>A" "" "pathogenic (recessive)" "" "0000595721" "3" "90" "15" "90774170" "90774171" "dup" "0" "02484" "CIB1_000001" "g.90774170_90774171dup" "" "{PMID:de Jong 2018:30068544}" "" "549_550insTT" "" "Germline" "yes" "" "0" "" "" "g.90230938_90230939dup" "" "pathogenic (recessive)" "" "0000597015" "3" "90" "15" "90774326" "90774326" "dup" "0" "02484" "CIB1_000004" "g.90774326dup" "" "{PMID:de Jong 2018:30068544}" "" "465_465+1insG" "" "Germline" "yes" "" "0" "" "" "g.90231094dup" "" "pathogenic (recessive)" "" "0000597016" "3" "90" "15" "90774687" "90774688" "del" "0" "00006" "CIB1_000005" "g.90774687_90774688del" "" "{PMID:de Jong 2018:30068544}" "" "248_249delAA" "" "Germline" "yes" "" "0" "" "" "g.90231455_90231456del" "" "pathogenic (recessive)" "" "0000597017" "3" "90" "15" "90774687" "90774688" "del" "0" "00006" "CIB1_000005" "g.90774687_90774688del" "" "{PMID:de Jong 2018:30068544}" "" "248_249delAA" "" "Germline" "" "" "0" "" "" "g.90231455_90231456del" "" "pathogenic (recessive)" "" "0000597018" "3" "90" "15" "90776937" "90776937" "subst" "0" "02484" "CIB1_000003" "g.90776937T>C" "" "{PMID:Vahidnezhad 2019:30503243}" "" "" "" "Germline" "yes" "" "0" "" "" "g.90233705T>C" "" "pathogenic (recessive)" "" "0000691912" "0" "50" "15" "90774393" "90774393" "subst" "0" "01943" "CIB1_000006" "g.90774393G>C" "" "" "" "CIB1(NM_001277764.1):c.519C>G (p.N173K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725382" "0" "50" "15" "90774651" "90774651" "subst" "1.21844E-5" "01943" "CIB1_000007" "g.90774651A>G" "" "" "" "CIB1(NM_001277764.1):c.404T>C (p.L135P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864199" "0" "30" "15" "90775443" "90775443" "subst" "0.000776874" "01943" "CIB1_000008" "g.90775443G>A" "" "" "" "CIB1(NM_001277764.1):c.315+8C>T, CIB1(NM_006384.4):c.195+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926088" "0" "30" "15" "90775443" "90775443" "subst" "0.000776874" "02326" "CIB1_000008" "g.90775443G>A" "" "" "" "CIB1(NM_001277764.1):c.315+8C>T, CIB1(NM_006384.4):c.195+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926089" "0" "50" "15" "90776900" "90776900" "subst" "0" "02326" "CIB1_000009" "g.90776900C>T" "" "" "" "CIB1(NM_006384.4):c.86+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950486" "0" "30" "15" "90774744" "90774746" "del" "0" "02326" "CIB1_000010" "g.90774744_90774746del" "" "" "" "CIB1(NM_006384.4):c.196-5_196-3delCCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes CIB1 ## Count = 15 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000349070" "00005181" "50" "5374" "0" "5374" "0" "c.*4798G>A" "r.(=)" "p.(=)" "" "0000595709" "00005181" "90" "465" "1" "465" "1" "c.465+1dup" "r.spl?" "p.(Ile166Aspfs*5)" "5i" "0000595710" "00005181" "90" "52" "-2" "52" "-2" "c.52-2A>G" "r.spl" "p.?" "1i" "0000595720" "00005181" "90" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Arg72*)" "4" "0000595721" "00005181" "90" "549" "0" "550" "0" "c.549_550dup" "r.(?)" "p.(Ala184Valfs*79)" "6" "0000597015" "00005181" "90" "465" "1" "465" "1" "c.465+1dup" "r.spl?" "p.(Ile166Aspfs*5)" "5i" "0000597016" "00005181" "90" "248" "0" "249" "0" "c.248_249del" "r.(?)" "p.(Lys83Argfs*4)" "4" "0000597017" "00005181" "90" "248" "0" "249" "0" "c.248_249del" "r.(?)" "p.(Lys83Argfs*4)" "4" "0000597018" "00005181" "90" "52" "-2" "52" "-2" "c.52-2A>G" "r.52_86del" "p.Asp18Serfs*7" "5i" "0000691912" "00005181" "50" "399" "0" "399" "0" "c.399C>G" "r.(?)" "p.(Asn133Lys)" "" "0000725382" "00005181" "50" "284" "0" "284" "0" "c.284T>C" "r.(?)" "p.(Leu95Pro)" "" "0000864199" "00005181" "30" "195" "8" "195" "8" "c.195+8C>T" "r.(=)" "p.(=)" "" "0000926088" "00005181" "30" "195" "8" "195" "8" "c.195+8C>T" "r.(=)" "p.(=)" "" "0000926089" "00005181" "50" "86" "1" "86" "1" "c.86+1G>A" "r.spl?" "p.?" "" "0000950486" "00005181" "30" "196" "-5" "196" "-3" "c.196-5_196-3del" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000265130" "0000595709" "0000265132" "0000595710" "0000265144" "0000595720" "0000265145" "0000595721" "0000266353" "0000597015" "0000266354" "0000597016" "0000266355" "0000597017" "0000266356" "0000597018"