### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PISD) # 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}}" "PISD" "phosphatidylserine decarboxylase" "22" "q12.2" "unknown" "NG_050741.1" "UD_132457015430" "" "https://www.LOVD.nl/PISD" "" "1" "8999" "23761" "612770" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-11-16 16:45:14" "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}}" "00016211" "PISD" "phosphatidylserine decarboxylase" "001" "NM_014338.3" "" "NP_055153.1" "" "" "" "-430" "2249" "1128" "32026810" "32014477" "" "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}}" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## 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}}" "00204189" "" "" "" "2" "" "02958" "" "two affected children" "-" "-" "India" "" "0" "" "" "" "02958" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00204189" "05517" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05517 ## 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}}" "0000154687" "05517" "00204189" "02958" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" ## 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}}" "0000205218" "00204189" "1" "02958" "02958" "2018-11-04 13:13:59" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "" ## 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 = 10 "{{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}}" "0000307982" "0" "30" "22" "31957277" "31957277" "subst" "0" "01943" "SFI1_000002" "g.31957277G>C" "" "" "" "SFI1(NM_001007467.2):c.664G>C (p.V222L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31561291G>C" "" "likely benign" "" "0000414028" "3" "90" "22" "32016645" "32016645" "subst" "0" "02958" "PISD_000001" "g.32016645C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.31620659C>T" "" "pathogenic" "" "0000951594" "0" "30" "22" "32044166" "32044166" "subst" "0.0303379" "01804" "PISD_000004" "g.32044166C>T" "" "" "" "PISD(NM_001326411.1):c.242G>A (p.(Arg81Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984190" "0" "50" "22" "32017090" "32017090" "subst" "4.87373E-5" "01804" "PISD_000005" "g.32017090G>A" "" "" "" "PISD(NM_001326411.1):c.736C>T (p.(Arg246Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006015" "0" "30" "22" "32014141" "32014141" "subst" "0.000337418" "01804" "PISD_000006" "g.32014141G>C" "" "" "" "SFI1(NM_001007467.2):c.3553G>C (p.(Glu1185Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006016" "0" "30" "22" "32016610" "32016610" "subst" "0" "01804" "PISD_000007" "g.32016610T>C" "" "" "" "PISD(NM_014338.3):c.832A>G (p.(Lys278Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043826" "0" "50" "22" "32015747" "32015751" "dup" "0" "01804" "PISD_000008" "g.32015747_32015751dup" "" "" "" "PISD(NM_001326411.1):c.1077_1081dup (p.(Glu361Valfs*36))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043827" "0" "50" "22" "32017670" "32017670" "subst" "7.32845E-5" "01804" "PISD_000009" "g.32017670G>T" "" "" "" "PISD(NM_001326411.1):c.523C>A (p.(Pro175Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043828" "0" "50" "22" "32017706" "32017706" "subst" "3.24886E-5" "01804" "PISD_000010" "g.32017706G>A" "" "" "" "PISD(NM_001326411.1):c.487C>T (p.(Arg163Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043829" "0" "30" "22" "32058153" "32058153" "subst" "0.000508638" "01804" "PISD_000011" "g.32058153G>A" "" "" "" "PISD(NM_001326418.2):c.-59C>T" "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 PISD ## Count = 10 "{{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}}" "0000307982" "00016211" "30" "59449" "0" "59449" "0" "c.*58321C>G" "r.(=)" "p.(=)" "" "0000414028" "00016211" "90" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Cys266Tyr)" "8" "0000951594" "00016211" "30" "-17786" "0" "-17786" "0" "c.-17786G>A" "r.(?)" "p.(=)" "" "0000984190" "00016211" "50" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Trp)" "" "0001006015" "00016211" "30" "2585" "0" "2585" "0" "c.*1457C>G" "r.(=)" "p.(=)" "" "0001006016" "00016211" "30" "832" "0" "832" "0" "c.832A>G" "r.(?)" "p.(Lys278Glu)" "" "0001043826" "00016211" "50" "975" "0" "979" "0" "c.975_979dup" "r.(?)" "p.(Glu327Valfs*36)" "" "0001043827" "00016211" "50" "421" "0" "421" "0" "c.421C>A" "r.(?)" "p.(Pro141Thr)" "" "0001043828" "00016211" "50" "385" "0" "385" "0" "c.385C>T" "r.(?)" "p.(Arg129Cys)" "" "0001043829" "00016211" "30" "-31773" "0" "-31773" "0" "c.-31773C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000205218" "0000414028"