### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = RFWD3)
# 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}}"
"RFWD3" "ring finger and WD repeat domain 3" "16" "q22.3" "unknown" "NC_000016.9" "UD_132378536237" "" "https://www.LOVD.nl/RFWD3" "Fanconi anemia mutation databases homepage (Rockefeller University) " "1" "25539" "55159" "614151" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.\r\nWe gratefully acknowledge the efforts of Arleen Auerbach curating the variant linked to Fanconi Anemia (until end 2019)." "" "g" "https://databases.lovd.nl/shared/refseq/RFWD3_codingDNA.html" "1" "" "![](\"docs/Logo_RockefellerUniversity.gif\")
A Fanconi anemia mutation database.
\r\n" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-07-21 08:05:49" "00000" "2026-01-20 18:57:21"
## 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}}"
"00017670" "RFWD3" "ring finger and WD repeat domain 3" "001" "NM_018124.3" "" "NP_060594.3" "" "" "" "-98" "4854" "2325" "74700779" "74655297" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"04300" "FANC" "Fanconi anemia (FANC)" "AD" "" "" "" "" "00006" "2015-07-19 11:40:38" "00006" "2021-12-10 21:51:32"
"05326" "FANCW" "Fanconi anemia, complementation group W (FANCW)" "" "" "" "" "" "00006" "2017-09-07 09:46:59" "" ""
"06303" "FANCW" "?Fanconi anemia, complementation group W" "AR" "617784" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}" "{{diseaseid}}"
"RFWD3" "04300"
"RFWD3" "05326"
"RFWD3" "06303"
## Individuals ## Do not remove or alter this header ##
## Count = 1
"{{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}}"
"00119161" "" "" "" "1" "" "00006" "{PMID:Knies 2017:28691929}, {DOI:Knies 2017:10.1172/JCI92069}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Germany" "" "0" "" "" "" "28691929-Pat1143"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}" "{{diseaseid}}"
"00119161" "04300"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 04300, 05326, 06303
## Count = 1
"{{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}}"
"0000094165" "04300" "00119161" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "Fanconi anemia, type W (FANCW)" "Fanconi anemia"
## Screenings ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000119630" "00119161" "1" "00006" "00006" "2017-09-08 19:29:07" "" "" "SEQ" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{geneid}}"
"0000119630" "RFWD3"
## 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 = 6
"{{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}}"
"0000195762" "11" "90" "16" "74695142" "74695143" "dup" "0" "00006" "RFWD3_000001" "g.74695142_74695143dup" "" "{PMID:Knies 2017:28691929}, {DOI:Knies 2017:10.1172/JCI92069}" "" "205_206dupCC" "" "Germline" "yes" "" "0" "" "" "g.74661244_74661245dup" "" "pathogenic" ""
"0000195763" "21" "90" "16" "74662403" "74662403" "subst" "0" "00006" "RFWD3_000002" "g.74662403A>T" "" "{PMID:Knies 2017:28691929}, {DOI:Knies 2017:10.1172/JCI92069}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74628505A>T" "" "pathogenic" ""
"0000324906" "0" "50" "16" "74670348" "74670359" "del" "0" "01804" "RFWD3_000003" "g.74670348_74670359del" "" "" "" "RFWD3(NM_018124.3):c.1315_1326del (p.(Gln439_Phe442del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74636450_74636461del" "" "VUS" ""
"0000982073" "0" "50" "16" "74671793" "74671793" "subst" "2.84409E-5" "01804" "RFWD3_000004" "g.74671793G>T" "" "" "" "RFWD3(NM_018124.4):c.1155C>A (p.(Val385=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000982074" "0" "30" "16" "74695018" "74695018" "subst" "4.06118E-6" "01804" "RFWD3_000005" "g.74695018G>C" "" "" "" "RFWD3(NM_018124.4):c.330C>G (p.(His110Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001066534" "0" "30" "16" "74698651" "74698652" "ins" "0" "02325" "chr16_007785" "g.74698651_74698652insGAA" "" "" "" "" "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 RFWD3
## Count = 6
"{{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}}"
"0000195762" "00017670" "90" "205" "0" "206" "0" "c.205_206dup" "r.(?)" "p.(Leu70Cysfs*12)" "2"
"0000195763" "00017670" "90" "1916" "0" "1916" "0" "c.1916T>A" "r.(?)" "p.(Ile639Lys)" "11"
"0000324906" "00017670" "50" "1315" "0" "1326" "0" "c.1315_1326del" "r.(?)" "p.(Gln439_Phe442del)" ""
"0000982073" "00017670" "50" "1155" "0" "1155" "0" "c.1155C>A" "r.(?)" "p.(=)" ""
"0000982074" "00017670" "30" "330" "0" "330" "0" "c.330C>G" "r.(?)" "p.(His110Gln)" ""
"0001066534" "00017670" "30" "-3" "2034" "-3" "2035" "c.-3+2034_-3+2035insCTT" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{variantid}}"
"0000119630" "0000195762"
"0000119630" "0000195763"