### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = C15orf41)
# 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}}"
"C15orf41" "chromosome 15 open reading frame 41" "15" "q14" "unknown" "NC_000015.9" "UD_132319892634" "" "https://www.LOVD.nl/CDIN1" "" "1" "26929" "84529" "615626" "1" "1" "1" "1" "NOTE: gene name changed from C15orf41 to CDIN1\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from C15orf41 to CDIN1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-02 09:46:00" "00000" "2024-08-28 13:16:32"
## 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}}"
"00025517" "C15orf41" "transcript variant 1" "001" "NM_001130010.1" "" "NP_001123482.1" "" "" "" "-250" "2227" "846" "36871812" "37102449" "00006" "2020-06-02 09:47:23" "" ""
## 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}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"04036" "CDAN1B" "anemia, dyserythropoietic, congenital, type ib (CDAN-1B)" "AR" "615631" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"C15orf41" "04036"
## 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}}"
"00291185" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}" "{{diseaseid}}"
"00291185" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 04036
## Count = 0
## 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}}"
"0000292353" "00291185" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
## 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 = 8
"{{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}}"
"0000554104" "0" "70" "15" "36989580" "36989580" "subst" "0" "02327" "C15orf41_000001" "g.36989580T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36697379T>A" "" "likely pathogenic" ""
"0000649042" "1" "10" "15" "36989578" "36989578" "subst" "0.0106677" "03575" "C15orf41_000002" "g.36989578C>T" "6/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs117638434}" "Germline" "" "rs117638434" "0" "" "" "g.36697377C>T" "" "benign" ""
"0000691781" "0" "10" "15" "36937405" "36937405" "subst" "0.963694" "02327" "C15orf41_000003" "g.36937405G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000691782" "0" "10" "15" "36946303" "36946303" "subst" "0.461006" "02327" "C15orf41_000004" "g.36946303C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000725051" "0" "30" "15" "36937461" "36937461" "subst" "0.0021074" "02326" "C15orf41_000005" "g.36937461C>T" "" "" "" "C15ORF41(NM_001130010.1):c.185C>T (p.(Ser62Leu)), C15orf41(NM_001130010.3):c.185C>T (p.S62L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000863798" "0" "30" "15" "36989578" "36989578" "subst" "0.0106677" "01804" "C15orf41_000002" "g.36989578C>T" "" "" "" "C15orf41(NM_001130010.1):c.531C>T (p.(Asn177=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000892007" "0" "10" "15" "36989578" "36989578" "subst" "0.0106677" "02327" "C15orf41_000002" "g.36989578C>T" "" "" "" "C15orf41(NM_001130010.1):c.531C>T (p.(Asn177=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0001001331" "0" "30" "15" "36937461" "36937461" "subst" "0.0021074" "01804" "C15orf41_000005" "g.36937461C>T" "" "" "" "C15ORF41(NM_001130010.1):c.185C>T (p.(Ser62Leu)), C15orf41(NM_001130010.3):c.185C>T (p.S62L)" "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 C15orf41
## Count = 8
"{{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}}"
"0000554104" "00025517" "70" "533" "0" "533" "0" "c.533T>A" "r.(?)" "p.(Leu178Gln)" ""
"0000649042" "00025517" "10" "531" "0" "531" "0" "c.531C>T" "r.(=)" "p.(=)" ""
"0000691781" "00025517" "10" "148" "-19" "148" "-19" "c.148-19G>T" "r.(=)" "p.(=)" ""
"0000691782" "00025517" "10" "217" "0" "217" "0" "c.217C>G" "r.(?)" "p.(Leu73Val)" ""
"0000725051" "00025517" "30" "185" "0" "185" "0" "c.185C>T" "r.(?)" "p.(Ser62Leu)" ""
"0000863798" "00025517" "30" "531" "0" "531" "0" "c.531C>T" "r.(?)" "p.(Asn177=)" ""
"0000892007" "00025517" "10" "531" "0" "531" "0" "c.531C>T" "r.(?)" "p.(Asn177=)" ""
"0001001331" "00025517" "30" "185" "0" "185" "0" "c.185C>T" "r.(?)" "p.(Ser62Leu)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{variantid}}"
"0000292353" "0000649042"