### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = C15orf60)
# 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}}"
"C15orf60" "chromosome 15 open reading frame 60" "15" "q22" "unknown" "NC_000015.9" "UD_136085966955" "" "https://www.LOVD.nl/REC114" "" "1" "25065" "283677" "0" "1" "1" "1" "1" "NOTE: gene name changed from C15orf60 to REC114\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "NOTE: gene name changed from C15orf60 to REC114" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-02-17 16:18:20" "00000" "2021-09-17 14:40:49"
## 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}}"
"00004058" "C15orf60" "chromosome 15 open reading frame 60" "001" "NM_001042367.1" "" "NP_001035826.1" "" "" "" "-28" "898" "801" "73735499" "73852354" "" "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}}"
"05472" "HYDM" "mole, hydatidiform, recurrent (HYDM)" "" "" "" "" "" "00006" "2018-09-29 23:17:06" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## 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}}"
"00181114" "" "" "" "1" "" "02576" "{PMID:Nguyen 2018:30388401}, {DOI:Nguyen 2018:10.1016/j.ajhg.2018.10.007}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "" "(Canada)" "" "0" "" "" "Turkish" "30388401-978"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}" "{{diseaseid}}"
"00181114" "05472"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 05472
## 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}}"
"0000143358" "05472" "00181114" "02576" "Familial, autosomal recessive" "" "diagnosed with recurrent hydatidiform mole" "" "" "" "" "" "" "" "" ""
## 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}}"
"0000182071" "00181114" "1" "02576" "02576" "2018-09-28 21:29:54" "" "" "SEQ-NG" "DNA" "" "WES (whole exome sequencing"
## 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 = 4
"{{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}}"
"0000405893" "3" "70" "15" "73843278" "73843278" "subst" "1.2222E-5" "02576" "C15orf60_000001" "g.73843278G>A" "" "{PMID:Nguyen 2018:30388401}, {DOI:Nguyen 2018:10.1016/j.ajhg.2018.10.007}" "" "" "" "Germline" "" "rs780169159" "0" "" "" "g.73550937G>A" "" "likely pathogenic (recessive)" ""
"0000623300" "0" "50" "15" "73735591" "73735591" "subst" "8.49801E-5" "01943" "C15orf60_000002" "g.73735591C>T" "" "" "" "REC114(NM_001042367.2):c.65C>T (p.P22L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73443250C>T" "" "VUS" ""
"0000623301" "0" "30" "15" "73843374" "73843374" "subst" "1.22201E-5" "01943" "C15orf60_000003" "g.73843374C>T" "" "" "" "REC114(NM_001042367.2):c.429C>T (p.Y143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73551033C>T" "" "likely benign" ""
"0000806919" "0" "50" "15" "73862704" "73862704" "del" "0" "02327" "C15orf60_000004" "g.73862704del" "" "" "" "" "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 C15orf60
## Count = 4
"{{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}}"
"0000405893" "00004058" "70" "334" "-1" "334" "-1" "c.334-1G>A" "r.spl" "p.?" ""
"0000623300" "00004058" "50" "65" "0" "65" "0" "c.65C>T" "r.(?)" "p.(Pro22Leu)" ""
"0000623301" "00004058" "30" "429" "0" "429" "0" "c.429C>T" "r.(?)" "p.(Tyr143=)" ""
"0000806919" "00004058" "50" "11248" "0" "11248" "0" "c.*10447del" "r.(?)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{variantid}}"
"0000182071" "0000405893"