### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PIGC) # 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}}" "PIGC" "phosphatidylinositol glycan anchor biosynthesis, class C" "1" "q23-q25" "unknown" "NG_050631.1" "UD_132319207660" "" "https://www.LOVD.nl/PIGC" "" "1" "8960" "5279" "601730" "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/PIGC_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-03-09 08:20:11" "00000" "2023-01-11 15:44:22" ## 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}}" "00016146" "PIGC" "transcript variant 1" "001" "NM_153747.1" "" "NP_714969.1" "" "" "" "-311" "1166" "894" "172413230" "172410597" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "05401" "GPIBD16" "glycosylphosphatidylinositol biosynthesis defect, type 16 (GPIBD-16)" "AR" "617816" "" "" "" "00006" "2018-03-09 08:24:14" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PIGC" "05401" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00155006" "" "" "" "1" "" "00081" "{PMID:Edvardson 2017:27694521}" "" "M" "no" "" "" "0" "" "" "Jewish-Sephardic" "B-II-1" "00155007" "" "" "" "2" "" "00081" "{PMID:Edvardson 2017:27694521}" "" "M" "yes" "" "" "0" "" "" "Moslem-Arab" "A-II-2" "00155008" "" "" "00155007" "1" "" "00081" "{PMID:Edvardson 2017:27694521}" "" "F" "yes" "" "" "0" "" "" "Moslem-Arab" "A-II-4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00155006" "00139" "00155007" "00139" "00155008" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 05401 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000155869" "00155006" "1" "00081" "00081" "2018-03-08 18:16:52" "" "" "SEQ-NG" "DNA" "" "WES" "0000155870" "00155007" "1" "00081" "00081" "2018-03-08 19:38:07" "" "" "SEQ-NG" "DNA" "" "WES" "0000155871" "00155008" "1" "00081" "00081" "2018-03-08 19:48:04" "" "" "SEQ-NG" "DNA" "" "WES" ## 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}}" "0000356959" "11" "70" "1" "172411702" "172411702" "subst" "7.31059E-5" "00081" "PIGC_000001" "g.172411702G>A" "" "{PMID:Edvardson et al. 2017:27694521}" "" "" "" "Germline" "" "" "0" "" "" "g.172442562G>A" "" "likely pathogenic" "" "0000356960" "21" "70" "1" "172411128" "172411128" "subst" "0" "00081" "PIGC_000002" "g.172411128A>G" "" "{PMID:Edvardson et al. 2017:27694521}" "" "" "" "Germline" "" "" "0" "" "" "g.172441988A>G" "" "likely pathogenic" "" "0000357609" "3" "70" "1" "172411197" "172411197" "subst" "0" "00081" "PIGC_000003" "g.172411197A>C" "" "{PMID:Edvardson et al. 2017:27694521}" "" "" "" "Germline" "yes" "" "0" "" "" "g.172442057A>C" "" "likely pathogenic" "" "0000357610" "3" "70" "1" "172411197" "172411197" "subst" "0" "00081" "PIGC_000003" "g.172411197A>C" "" "{PMID:Edvardson et al. 2017:27694521}" "" "" "" "Germline" "yes" "" "0" "" "" "g.172442057A>C" "" "likely pathogenic" "" "0000504234" "0" "30" "1" "172411370" "172411370" "subst" "0.00108595" "01943" "C1orf105_000001" "g.172411370A>G" "" "" "" "PIGC(NM_002642.3):c.393T>C (p.Y131=), PIGC(NM_002642.4):c.393T>C (p.Y131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.172442230A>G" "" "likely benign" "" "0000504235" "0" "50" "1" "172411739" "172411739" "del" "0" "01943" "C1orf105_000002" "g.172411739del" "" "" "" "PIGC(NM_002642.3):c.24delC (p.N8Kfs*51)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.172442599del" "" "VUS" "" "0000716985" "0" "50" "1" "172411206" "172411206" "subst" "3.24894E-5" "02329" "C1orf105_000003" "g.172411206G>C" "" "" "" "PIGC(NM_002642.4):c.557C>G (p.S186C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798901" "0" "30" "1" "172411433" "172411433" "subst" "0.000113732" "01943" "C1orf105_000004" "g.172411433C>A" "" "" "" "PIGC(NM_002642.3):c.330G>T (p.K110N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848390" "0" "30" "1" "172411370" "172411370" "subst" "0.00108595" "02326" "C1orf105_000001" "g.172411370A>G" "" "" "" "PIGC(NM_002642.3):c.393T>C (p.Y131=), PIGC(NM_002642.4):c.393T>C (p.Y131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990553" "0" "70" "1" "172411298" "172411298" "del" "0" "01804" "C1orf105_000005" "g.172411298del" "" "" "" "PIGC(NM_153747.1):c.465delC (p.(Phe155fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 PIGC ## 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}}" "0000356959" "00016146" "70" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Arg21*)" "2" "0000356960" "00016146" "70" "635" "0" "635" "0" "c.635T>C" "r.(?)" "p.(Leu212Pro)" "2" "0000357609" "00016146" "70" "566" "0" "566" "0" "c.566T>G" "r.(?)" "p.(Leu189Trp)" "2" "0000357610" "00016146" "70" "566" "0" "566" "0" "c.566T>G" "r.(?)" "p.(Leu189Trp)" "2" "0000504234" "00016146" "30" "393" "0" "393" "0" "c.393T>C" "r.(?)" "p.(Tyr131=)" "" "0000504235" "00016146" "50" "24" "0" "24" "0" "c.24del" "r.(?)" "p.(Asn8LysfsTer51)" "" "0000716985" "00016146" "50" "557" "0" "557" "0" "c.557C>G" "r.(?)" "p.(Ser186Cys)" "" "0000798901" "00016146" "30" "330" "0" "330" "0" "c.330G>T" "r.(?)" "p.(Lys110Asn)" "" "0000848390" "00016146" "30" "393" "0" "393" "0" "c.393T>C" "r.(?)" "p.(Tyr131=)" "" "0000990553" "00016146" "70" "465" "0" "465" "0" "c.465del" "r.(?)" "p.(Phe155Leufs*4)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000155869" "0000356959" "0000155869" "0000356960" "0000155870" "0000357609" "0000155871" "0000357610"