### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CD320) # 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}}" "CD320" "CD320 molecule" "19" "p13.3-p13.2" "unknown" "NG_028124.1" "UD_132118968016" "" "https://www.LOVD.nl/CD320" "" "1" "16692" "51293" "606475" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/CD320_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-10-11 16:37:45" "00006" "2024-09-11 15:28:15" ## 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}}" "00004766" "CD320" "transcript variant 1" "002" "NM_016579.3" "" "NP_057663.1" "" "" "" "-66" "1185" "849" "8373240" "8367011" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02554" "metabolic syndrome" "metabolic syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-01-15 15:48:08" "03376" "-" "aciduria, methylmalonic, due to transcobalamin receptor defect" "" "613646" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:51:33" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CD320" "03376" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00181055" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00206475" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "European" "" "00292217" "" "" "" "208" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304680" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308756" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00453614" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat30" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00181055" "03376" "00206475" "03376" "00292217" "00198" "00304680" "00198" "00308756" "00000" "00453614" "02554" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 02554, 03376 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000143308" "03376" "00181055" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000342271" "02554" "00453614" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "08y-09y" "" "" "" "" "" "" "" "methylmalonic aciduria" "inborn error of metabolism" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000182003" "00181055" "1" "02568" "02568" "2018-09-21 13:39:55" "" "" "SEQ-NG-I" "DNA" "" "" "0000207507" "00206475" "1" "00000" "00115" "2010-08-16 11:43:49" "" "" "SEQ" "DNA" "" "" "0000293385" "00292217" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305809" "00304680" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309901" "00308756" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000455226" "00453614" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000182003" "CD320" "0000207507" "CD320" "0000309901" "CD320" ## 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 = 16 "{{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}}" "0000405809" "11" "50" "19" "8369925" "8369927" "del" "0" "02568" "CD320_000001" "g.8369925_8369927del" "" "" "" "262_264delGAG" "" "Germline" "" "" "0" "" "" "g.8305041_8305043del" "" "VUS" "" "0000405810" "21" "90" "19" "8373028" "8373028" "subst" "0" "02568" "CD320_000006" "g.8373028C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.8308144C>T" "" "pathogenic" "" "0000437165" "3" "95" "19" "8369925" "8369927" "del" "0" "00000" "CD320_000001" "g.8369925_8369927del" "" "{PMID: Quadros 2010:20524213}" "" "p.E88del" "" "Unknown" "" "" "0" "" "" "g.8305041_8305043del" "" "pathogenic" "" "0000437166" "3" "35" "19" "8368794" "8368794" "subst" "0.0560754" "00000" "CD320_000002" "g.8368794C>A" "" "{PMID: Quadros 2010:20524213}" "" "c.512A>T, silent polymorphysm" "" "Unknown" "" "" "0" "" "" "g.8303910C>A" "" "likely benign" "" "0000437167" "3" "35" "19" "8368758" "8368758" "subst" "0.0557209" "00000" "CD320_000003" "g.8368758G>A" "" "{PMID: Quadros 2010:20524213}" "" "c.548C>T, silent polymorphysm" "" "Unknown" "" "" "0" "" "" "g.8303874G>A" "" "likely benign" "" "0000437168" "3" "35" "19" "8368752" "8368752" "subst" "0" "00000" "CD320_000004" "g.8368752G>C" "" "{PMID: Quadros 2010:20524213}" "" "p.S142G" "" "Unknown" "" "" "0" "" "" "g.8303868G>C" "" "likely benign" "" "0000437169" "3" "35" "19" "8367709" "8367709" "subst" "0.057596" "00000" "CD320_000005" "g.8367709C>T" "" "{PMID: Quadros 2010:20524213}" "" "c.723C>A, G220R" "" "Unknown" "" "" "0" "" "" "g.8302825C>T" "" "likely benign" "" "0000650074" "1" "10" "19" "8367709" "8367709" "subst" "0.057596" "03575" "CD320_000005" "g.8367709C>T" "208/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "208 heterozygous; {DB:CLININrs2336573}" "Germline" "" "rs2336573" "0" "" "" "g.8302825C>T" "" "benign" "" "0000669497" "3" "10" "19" "8367709" "8367709" "subst" "0.057596" "03575" "CD320_000005" "g.8367709C>T" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 homozygous; {DB:CLININrs2336573}" "Germline" "" "rs2336573" "0" "" "" "g.8302825C>T" "" "benign" "" "0000681548" "0" "10" "19" "8369925" "8369927" "del" "0" "02325" "CD320_000001" "g.8369925_8369927del" "" "" "" "CD320(NM_016579.3):c.262_264delGAG (p.(Glu88del)), CD320(NM_016579.3):c.262_264delGAG (p.E88del), CD320(NM_016579.4):c.262_264delGAG (p.E88del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000684803" "0" "30" "19" "8369919" "8369921" "" "0.00920447" "00004" "CD320_000001" "g.8369919_8369921del" "frequency 0.015" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.8305035_8305037del" "" "likely benign" "" "0000809120" "0" "50" "19" "8368855" "8368855" "subst" "0.000201472" "02325" "CD320_000007" "g.8368855C>A" "" "" "" "CD320(NM_016579.4):c.386G>T (p.R129L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809121" "0" "50" "19" "8369925" "8369927" "del" "0" "02326" "CD320_000001" "g.8369925_8369927del" "" "" "" "CD320(NM_016579.3):c.262_264delGAG (p.(Glu88del)), CD320(NM_016579.3):c.262_264delGAG (p.E88del), CD320(NM_016579.4):c.262_264delGAG (p.E88del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005226" "0" "50" "19" "8369925" "8369927" "del" "0" "01804" "CD320_000001" "g.8369925_8369927del" "" "" "" "CD320(NM_016579.3):c.262_264delGAG (p.(Glu88del)), CD320(NM_016579.3):c.262_264delGAG (p.E88del), CD320(NM_016579.4):c.262_264delGAG (p.E88del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007259" "1" "70" "19" "8369925" "8369927" "del" "0" "00006" "CD320_000001" "g.8369925_8369927del" "" "{PMID:Navarrete 2019:30626930}" "" "262_264delGAG" "" "Germline" "" "" "0" "" "" "g.8305041_8305043del" "" "likely pathogenic" "" "0001007382" "2" "70" "19" "8373028" "8373028" "subst" "0" "00006" "CD320_000006" "g.8373028C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.8308144C>T" "" "likely pathogenic" "" ## 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 CD320 ## Count = 16 "{{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}}" "0000405809" "00004766" "50" "262" "0" "264" "0" "c.262_264del" "r.(?)" "p.(Glu88del)" "" "0000405810" "00004766" "90" "142" "5" "142" "5" "c.142+5G>A" "r.spl?" "p.?" "" "0000437165" "00004766" "95" "262" "0" "264" "0" "c.262_264del" "r.(?)" "p.(Glu88del)" "?" "0000437166" "00004766" "35" "447" "0" "447" "0" "c.447G>T" "r.(?)" "p.(=)" "?" "0000437167" "00004766" "35" "483" "0" "483" "0" "c.483C>T" "r.(?)" "p.(=)" "?" "0000437168" "00004766" "35" "489" "0" "489" "0" "c.489C>G" "r.(?)" "p.(Asp163Glu)" "?" "0000437169" "00004766" "35" "658" "0" "658" "0" "c.658G>A" "r.(?)" "p.(Gly220Arg)" "?" "0000650074" "00004766" "10" "658" "0" "658" "0" "c.658G>A" "r.(?)" "p.(Gly220Arg)" "" "0000669497" "00004766" "10" "658" "0" "658" "0" "c.658G>A" "r.(?)" "p.(Gly220Arg)" "" "0000681548" "00004766" "10" "262" "0" "264" "0" "c.262_264del" "r.(?)" "p.(Glu88del)" "" "0000684803" "00004766" "30" "262" "0" "264" "0" "c.262_264del" "r.(?)" "p.(Glu88del)" "" "0000809120" "00004766" "50" "386" "0" "386" "0" "c.386G>T" "r.(?)" "p.(Arg129Leu)" "" "0000809121" "00004766" "50" "262" "0" "264" "0" "c.262_264del" "r.(?)" "p.(Glu88del)" "" "0001005226" "00004766" "50" "262" "0" "264" "0" "c.262_264del" "r.(?)" "p.(Glu88del)" "" "0001007259" "00004766" "70" "262" "0" "264" "0" "c.262_264del" "r.(?)" "p.(Glu88del)" "" "0001007382" "00004766" "70" "142" "5" "142" "5" "c.142+5G>A" "r.spl" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000182003" "0000405809" "0000182003" "0000405810" "0000207507" "0000437165" "0000207507" "0000437166" "0000207507" "0000437167" "0000207507" "0000437168" "0000207507" "0000437169" "0000293385" "0000650074" "0000305809" "0000669497" "0000309901" "0000684803" "0000455226" "0001007259" "0000455226" "0001007382"