### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PCBD1) # 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}}" "PCBD1" "pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha" "10" "q22" "unknown" "NG_008646.1" "UD_132085254682" "" "http://www.LOVD.nl/PCBD1" "" "1" "8646" "5092" "126090" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-11-07 09:01:05" "00000" "2025-07-08 13:22:38" ## 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}}" "00015725" "PCBD1" "pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha" "001" "NM_000281.2" "" "NP_000272.1" "" "" "" "-251" "755" "315" "72648541" "72643267" "" "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}}" "02028" "HPABH4D" "hyperphenylalaninemia, BH4-deficient, type D (HPABH4D)" "AR" "264070" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-01-06 17:34:29" "05683" "HPA" "hyperphenylalaninemia (HPA)" "AD" "" "" "" "" "00006" "2020-01-06 17:35:01" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PCBD1" "02028" "PCBD1" "05683" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02028, 05683 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 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 = 12 "{{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}}" "0000296778" "0" "50" "10" "72644920" "72644920" "subst" "0.000308602" "02325" "PCBD1_000001" "g.72644920C>T" "" "" "" "PCBD1(NM_000281.2):c.205G>A (p.(Val69Met)), PCBD1(NM_000281.4):c.205G>A (p.V69M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70885163C>T" "" "VUS" "" "0000540609" "0" "30" "10" "72645662" "72645662" "subst" "1.6279E-5" "01804" "PCBD1_000002" "g.72645662C>T" "" "" "" "PCBD1(NM_000281.2):c.28G>A (p.(Ala10Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70885905C>T" "" "likely benign" "" "0000804507" "0" "90" "10" "72643730" "72643730" "subst" "0.000142316" "02325" "PCBD1_000004" "g.72643730G>A" "" "" "" "PCBD1(NM_000281.4):c.292C>T (p.Q98*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861964" "0" "50" "10" "72643753" "72643753" "subst" "4.06306E-6" "01804" "PCBD1_000005" "g.72643753A>G" "" "" "" "PCBD1(NM_000281.2):c.269T>C (p.(Ile90Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861965" "0" "90" "10" "72643759" "72643759" "subst" "0.000264167" "01804" "PCBD1_000006" "g.72643759C>T" "" "" "" "PCBD1(NM_000281.2):c.263G>A (p.(Arg88Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861966" "0" "50" "10" "72644920" "72644920" "subst" "0.000308602" "01804" "PCBD1_000001" "g.72644920C>T" "" "" "" "PCBD1(NM_000281.2):c.205G>A (p.(Val69Met)), PCBD1(NM_000281.4):c.205G>A (p.V69M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861967" "0" "50" "10" "72648288" "72648288" "subst" "0" "01804" "PCBD1_000007" "g.72648288C>G" "" "" "" "PCBD1(NM_000281.2):c.3G>C (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889210" "0" "30" "10" "72637078" "72637078" "subst" "0.00101135" "02326" "PCBD1_000008" "g.72637078C>T" "" "" "" "SGPL1(NM_003901.4):c.1693C>T (p.P565S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913312" "0" "70" "10" "72648287" "72648287" "subst" "0" "01804" "PCBD1_000009" "g.72648287C>A" "" "" "" "PCBD1(NM_000281.2):c.3+1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000929693" "0" "30" "10" "72643797" "72643797" "subst" "4.07412E-6" "01804" "PCBD1_000010" "g.72643797G>T" "" "" "" "PCBD1(NM_000281.2):c.225C>A (p.(Ile75=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965808" "0" "30" "10" "72644892" "72644892" "subst" "9.33965E-5" "01804" "PCBD1_000011" "g.72644892C>T" "" "" "" "PCBD1(NM_000281.2):c.216+17G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046246" "0" "90" "10" "72643763" "72643763" "subst" "6.50243E-5" "01804" "PCBD1_000012" "g.72643763C>A" "" "" "" "PCBD1(NM_000281.2):c.259G>T (p.(Glu87Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 PCBD1 ## Count = 12 "{{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}}" "0000296778" "00015725" "50" "205" "0" "205" "0" "c.205G>A" "r.(?)" "p.(Val69Met)" "" "0000540609" "00015725" "30" "28" "0" "28" "0" "c.28G>A" "r.(?)" "p.(Ala10Thr)" "" "0000804507" "00015725" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Gln98*)" "" "0000861964" "00015725" "50" "269" "0" "269" "0" "c.269T>C" "r.(?)" "p.(Ile90Thr)" "" "0000861965" "00015725" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88Gln)" "" "0000861966" "00015725" "50" "205" "0" "205" "0" "c.205G>A" "r.(?)" "p.(Val69Met)" "" "0000861967" "00015725" "50" "3" "0" "3" "0" "c.3G>C" "r.(?)" "p.(Met1?)" "" "0000889210" "00015725" "30" "6944" "0" "6944" "0" "c.*6629G>A" "r.(=)" "p.(=)" "" "0000913312" "00015725" "70" "3" "1" "3" "1" "c.3+1G>T" "r.spl?" "p.?" "" "0000929693" "00015725" "30" "225" "0" "225" "0" "c.225C>A" "r.(?)" "p.(=)" "" "0000965808" "00015725" "30" "216" "17" "216" "17" "c.216+17G>A" "r.(=)" "p.(=)" "" "0001046246" "00015725" "90" "259" "0" "259" "0" "c.259G>T" "r.(?)" "p.(Glu87*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0