### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = FUK)
# 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}}"
"FUK" "fucokinase" "16" "q22.1" "unknown" "NC_000016.9" "UD_132465184490" "" "https://www.LOVD.nl/FCSK" "" "1" "29500" "197258" "608675" "1" "1" "1" "1" "NOTE: gene name changed from FUK to FCSK\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from FUK to FCSK" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-12-13 13:50:42" "00000" "2025-05-05 21:14:00"
## 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}}"
"00008198" "FUK" "fucokinase" "001" "NM_145059.2" "" "NP_659496.2" "" "" "" "-58" "3849" "3255" "70488498" "70514177" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"06313" "CDGF2" "Congenital disorder of glycosylation with defective fucosylation 2" "AR" "618324" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"FUK" "06313"
## Individuals ## Do not remove or alter this header ##
## Count = 0
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 06313
## Count = 0
## Screenings ## Do not remove or alter this header ##
## Count = 0
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 0
## 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 = 22
"{{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}}"
"0000266873" "0" "10" "16" "70515355" "70515355" "subst" "0.416012" "02325" "COG4_000001" "g.70515355C>T" "" "" "" "COG4(NM_015386.3):c.2142G>A (p.S714=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70481452C>T" "" "benign" ""
"0000324865" "0" "30" "16" "70512518" "70512518" "subst" "4.06597E-5" "01804" "FUK_000006" "g.70512518G>A" "" "" "" "FUK(NM_145059.2):c.2894G>A (p.(Arg965Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70478615G>A" "" "likely benign" ""
"0000345503" "0" "50" "16" "70516637" "70516637" "subst" "4.06217E-6" "02327" "COG4_000005" "g.70516637C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70482734C>G" "" "VUS" ""
"0000558958" "0" "30" "16" "70513576" "70513576" "subst" "0.000248371" "01943" "FUK_000008" "g.70513576T>A" "" "" "" "FUK(NM_145059.3):c.3248T>A (p.F1083Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70479673T>A" "" "likely benign" ""
"0000558961" "0" "30" "16" "70517785" "70517785" "subst" "2.84428E-5" "01804" "FUK_000011" "g.70517785C>T" "" "" "" "COG4(NM_001195139.1):c.1735G>A (p.(Val579Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70483882C>T" "" "likely benign" ""
"0000558962" "0" "30" "16" "70517820" "70517820" "subst" "0" "01804" "FUK_000012" "g.70517820G>A" "" "" "" "COG4(NM_001195139.1):c.1700C>T (p.(Ala567Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70483917G>A" "" "likely benign" ""
"0000725931" "0" "70" "16" "70497538" "70497538" "subst" "5.69944E-5" "02329" "FUK_000013" "g.70497538G>A" "" "" "" "FCSK(NM_145059.3):c.95G>A (p.R32Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000725932" "0" "70" "16" "70505155" "70505155" "del" "0" "02329" "FUK_000014" "g.70505155del" "" "" "" "FCSK(NM_145059.3):c.1241delG (p.G414Afs*160)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000854611" "0" "30" "16" "70513553" "70513553" "subst" "0.00278562" "02325" "FUK_000015" "g.70513553C>T" "" "" "" "FCSK(NM_145059.3):c.3225C>T (p.T1075=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000950713" "0" "70" "16" "70502757" "70502758" "del" "1.62579E-5" "01804" "FUK_000016" "g.70502757_70502758del" "" "" "" "FUK(NM_145059.2):c.669_670del (p.(Val225Cysfs*42))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000968476" "0" "50" "16" "70512228" "70512228" "subst" "2.03153E-5" "01804" "FUK_000017" "g.70512228C>T" "" "" "" "FUK(NM_145059.2):c.2695C>T (p.(Arg899Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000982020" "0" "30" "16" "70505079" "70505079" "subst" "0" "01804" "FUK_000018" "g.70505079C>A" "" "" "" "FCSK(NM_145059.3):c.1171-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000982021" "0" "50" "16" "70506443" "70506443" "subst" "0" "01804" "FUK_000019" "g.70506443G>A" "" "" "" "FCSK(NM_145059.3):c.1342-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000982022" "0" "50" "16" "70509601" "70509601" "subst" "0.0011735" "01804" "FUK_000020" "g.70509601G>A" "" "" "" "FCSK(NM_145059.3):c.2572G>A (p.(Ala858Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000982023" "0" "30" "16" "70515778" "70515778" "subst" "2.4665E-5" "01804" "FUK_000021" "g.70515778G>C" "" "" "" "COG4(NM_015386.3):c.2005-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000989920" "0" "50" "16" "70512235" "70512235" "subst" "0.000710833" "03779" "FUK_000022" "g.70512235G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs201287158" "0" "" "" "" "" "VUS" ""
"0000989921" "0" "50" "16" "70512327" "70512327" "subst" "4.06161E-6" "03779" "FUK_000023" "g.70512327A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs532339080" "0" "" "" "" "" "VUS" ""
"0001026753" "0" "50" "16" "70513133" "70513133" "subst" "0.000231873" "02325" "FUK_000024" "g.70513133A>C" "" "" "" "FCSK(NM_145059.3):c.2980A>C (p.K994Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001041299" "0" "70" "16" "70504261" "70504279" "del" "0" "01804" "FUK_000025" "g.70504261_70504279del" "" "" "" "FCSK(NM_145059.3):c.1000_1018del (p.(Glu335Hisfs*55))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001041300" "0" "50" "16" "70512256" "70512256" "subst" "0" "01804" "FUK_000026" "g.70512256T>C" "" "" "" "FCSK(NM_145059.3):c.2723T>C (p.(Val908Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001041301" "0" "50" "16" "70512306" "70512306" "subst" "0" "01804" "FUK_000027" "g.70512306G>A" "" "" "" "FCSK(NM_145059.3):c.2773G>A (p.(Asp925Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001041302" "0" "50" "16" "70516038" "70516038" "subst" "1.21822E-5" "01804" "FUK_000028" "g.70516038T>C" "" "" "" "COG4(NM_015386.3):c.1961A>G (p.(Gln654Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
## 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 FUK
## Count = 22
"{{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}}"
"0000266873" "00008198" "10" "5027" "0" "5027" "0" "c.*1772C>T" "r.(=)" "p.(=)" ""
"0000324865" "00008198" "30" "2894" "0" "2894" "0" "c.2894G>A" "r.(?)" "p.(Arg965Gln)" ""
"0000345503" "00008198" "50" "6309" "0" "6309" "0" "c.*3054C>G" "r.(=)" "p.(=)" ""
"0000558958" "00008198" "30" "3248" "0" "3248" "0" "c.3248T>A" "r.(?)" "p.(Phe1083Tyr)" ""
"0000558961" "00008198" "30" "7457" "0" "7457" "0" "c.*4202C>T" "r.(=)" "p.(=)" ""
"0000558962" "00008198" "30" "7492" "0" "7492" "0" "c.*4237G>A" "r.(=)" "p.(=)" ""
"0000725931" "00008198" "70" "95" "0" "95" "0" "c.95G>A" "r.(?)" "p.(Arg32Gln)" ""
"0000725932" "00008198" "70" "1241" "0" "1241" "0" "c.1241del" "r.(?)" "p.(Gly414Alafs*160)" ""
"0000854611" "00008198" "30" "3225" "0" "3225" "0" "c.3225C>T" "r.(?)" "p.(Thr1075=)" ""
"0000950713" "00008198" "70" "669" "0" "670" "0" "c.669_670del" "r.(?)" "p.(Val225Cysfs*42)" ""
"0000968476" "00008198" "50" "2695" "0" "2695" "0" "c.2695C>T" "r.(?)" "p.(Arg899Cys)" ""
"0000982020" "00008198" "30" "1171" "-6" "1171" "-6" "c.1171-6C>A" "r.(=)" "p.(=)" ""
"0000982021" "00008198" "50" "1342" "-1" "1342" "-1" "c.1342-1G>A" "r.spl?" "p.?" ""
"0000982022" "00008198" "50" "2572" "0" "2572" "0" "c.2572G>A" "r.(?)" "p.(Ala858Thr)" ""
"0000982023" "00008198" "30" "5450" "0" "5450" "0" "c.*2195G>C" "r.(=)" "p.(=)" ""
"0000989920" "00008198" "50" "2702" "0" "2702" "0" "c.2702G>A" "r.(?)" "p.(Arg901Gln)" ""
"0000989921" "00008198" "50" "2794" "0" "2794" "0" "c.2794A>G" "r.(?)" "p.(Thr932Ala)" ""
"0001026753" "00008198" "50" "2980" "0" "2980" "0" "c.2980A>C" "r.(?)" "p.(Lys994Gln)" ""
"0001041299" "00008198" "70" "1000" "0" "1018" "0" "c.1000_1018del" "r.(?)" "p.(Glu335Hisfs*55)" ""
"0001041300" "00008198" "50" "2723" "0" "2723" "0" "c.2723T>C" "r.(?)" "p.(Val908Ala)" ""
"0001041301" "00008198" "50" "2773" "0" "2773" "0" "c.2773G>A" "r.(?)" "p.(Asp925Asn)" ""
"0001041302" "00008198" "50" "5710" "0" "5710" "0" "c.*2455T>C" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 0